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Entry
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- *605014 - SYNTAXIN 11; STX11
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- OMIM
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<p>
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<span class="h4">*605014</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<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 role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/605014">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<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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<h4 class="panel-title">
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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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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=ENSG00000135604;t=ENST00000367568" 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=8676" 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=605014" 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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<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 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=ENSG00000135604;t=ENST00000367568" 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_003764,XM_011536213,XM_011536214,XM_011536217,XM_011536218,XM_047419436,XM_047419437,XM_047419438,XM_047419439,XM_047419440,XM_047419441" 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_003764" 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=605014" 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 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=09231&isoform_id=09231_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/STX11" 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/3243240,3248918,4104685,6175047,23273200,33667038,119568234,119568235,767943789,767943791,767943797,767943799,2217363384,2217363387,2217363389,2217363391,2217363393,2217363395,2462611026,2462611028,2462611030,2462611032,2462611034,2462611036,2462611038,2462611040" 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/O75558" 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=8676" 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=ENSG00000135604;t=ENST00000367568" 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=STX11" 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=STX11" 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+8676" 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/STX11" 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:8676" 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/8676" 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=chr6&hgg_gene=ENST00000685851.2&hgg_start=144139963&hgg_end=144191939&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11429" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:11429" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605014[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 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=605014[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000135604" 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=STX11" 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=STX11" 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=STX11" 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="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://structure.bmc.lu.se/idbase/STX11base/" title="STX11base: Mutation registry for Familial haemophagocytic lymphohistiocytosis 4 (FHL4)" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">STX11base: Mutation regist…</a></div><div style="margin-left: 0.5em;"><a href="http://www.LOVD.nl/STX11" title="CCHMC Molecular Genetics Laboratory Mutation Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">CCHMC Molecular Genetics L…</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=STX11&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/PA36229" 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:11429" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1921982" 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/STX11#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:1921982" 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/8676/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=8676" 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-040426-1893" 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:8676" 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=STX11&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<div>
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<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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605014
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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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SYNTAXIN 11; STX11
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=STX11" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">STX11</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/6/923?start=-3&limit=10&highlight=923">6q24.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:144139963-144191939&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'})">6:144,139,963-144,191,939</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
|
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<a href="/geneMap/6/923?start=-3&limit=10&highlight=923">
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6q24.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Hemophagocytic lymphohistiocytosis, familial, 4
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603552"> 603552 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/605014" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/605014" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<p>The STX11 gene encodes syntaxin-11, a protein involved in vesicle exocytosis. Syntaxin-11 contains a C-terminal SNARE domain (summary by <a href="#3" class="mim-tip-reference" title="Muller, M.-L., Chiang, S. C. C., Meeths, M., Tesi, B., Entesarian, M., Nilsson, D., Wood, S. M., Nordenskjold, M., Henter, J.-I., Naqvi, A., Bryceson, Y. T. <strong>An N-terminal missense mutation in STX11 causative of FHL4 abrogates syntaxin-11 binding to Munc18-2.</strong> Front. Immun. 4: 515, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24459464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24459464</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24459464[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/10.3389/fimmu.2013.00515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24459464">Muller et al., 2014</a>). SNARE proteins play a role in regulating intracellular protein transport between donor and target membranes. This docking and fusion process involves the interaction of specific vesicle-SNAREs (e.g., VAMP, <a href="/entry/603177">603177</a>) with specific cognate target-SNAREs (e.g., SNAP23, <a href="/entry/602534">602534</a>) (summary by <a href="#6" class="mim-tip-reference" title="Valdez, A. C., Cabaniols, J.-P., Brown, M. J., Roche, P. A. <strong>Syntaxin 11 is associated with SNAP-23 on late endosomes and the trans-Golgi network.</strong> J. Cell Sci. 112: 845-854, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10036234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10036234</a>] [<a href="https://doi.org/10.1242/jcs.112.6.845" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10036234">Valdez et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10036234+24459464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Advani, R. J., Bae, H.-R., Bock, J. B., Chao, D. S., Doung, Y.-C., Prekeris, R., Yoo, J.-S., Scheller, R. H. <strong>Seven novel mammalian SNARE proteins localize to distinct membrane compartments.</strong> J. Biol. Chem. 273: 10317-10324, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9553086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9553086</a>] [<a href="https://doi.org/10.1074/jbc.273.17.10317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9553086">Advani et al. (1998)</a> and <a href="#5" class="mim-tip-reference" title="Tang, B. L., Low, D. Y. H., Hong, W. <strong>Syntaxin 11: a member of the syntaxin family without a carboxyl terminal transmembrane domain.</strong> Biochem. Biophys. Res. Commun. 245: 627-632, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9571206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9571206</a>] [<a href="https://doi.org/10.1006/bbrc.1998.8490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9571206">Tang et al. (1998)</a> identified human syntaxin-11 by searching EST databases for clones with sequence similarity to other syntaxin proteins. Both groups found that STX11 encodes a deduced 287-amino acid protein with several predicted coiled-coil domains. Unlike most membrane-associated proteins, STX11 lacks a hydrophobic domain but contains a cysteine-rich C terminus. Like SNAP25 (<a href="/entry/600322">600322</a>), STX11 may be anchored to membranes by palmitoylated cysteines. By Northern blot analysis, <a href="#5" class="mim-tip-reference" title="Tang, B. L., Low, D. Y. H., Hong, W. <strong>Syntaxin 11: a member of the syntaxin family without a carboxyl terminal transmembrane domain.</strong> Biochem. Biophys. Res. Commun. 245: 627-632, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9571206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9571206</a>] [<a href="https://doi.org/10.1006/bbrc.1998.8490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9571206">Tang et al. (1998)</a> identified 2 STX11 transcripts of approximately 0.8 and 1.7 kb that are particularly abundant in heart and placenta and are detectable at low levels in other tissues but not in brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9553086+9571206" 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 a yeast 2-hybrid system to screen a human B-lymphocyte cDNA library with SNAP23 as bait, <a href="#6" class="mim-tip-reference" title="Valdez, A. C., Cabaniols, J.-P., Brown, M. J., Roche, P. A. <strong>Syntaxin 11 is associated with SNAP-23 on late endosomes and the trans-Golgi network.</strong> J. Cell Sci. 112: 845-854, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10036234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10036234</a>] [<a href="https://doi.org/10.1242/jcs.112.6.845" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10036234">Valdez et al. (1999)</a> cloned STX11. They determined that STX11 has a molecular mass of 35 kD and is an integral membrane protein despite the lack of a traditional transmembrane domain. Both transfected and endogenous STX11 binds to SNAP23 in vitro and in vivo. STX11 colocalizes with mannose 6-phosphate on late endosomes and the trans-Golgi network. Immunofluorescence microscopy showed that when the cysteine cluster at the C terminus of STX11 is deleted, the punctate intracellular structure does not differ from that of the wildtype protein, demonstrating that targeting and retention of STX11 on the intracellular membrane does not depend exclusively on amino acids in the cysteine-rich domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10036234" 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>The STX11 gene consists of 2 exons and covers a genomic interval of 37 kb (<a href="#9" class="mim-tip-reference" title="Zur Stadt, U., Schmidt, S., Kasper, B., Beutel, K., Diler, A. S., Henter, J. I., Kabisch, H., Schneppenheim, R., Nurnberg, P., Janka, G., Hennies, H. C. <strong>Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.</strong> Hum. Molec. Genet. 14: 827-834, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15703195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15703195</a>] [<a href="https://doi.org/10.1093/hmg/ddi076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15703195">Zur Stadt et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15703195" 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>Mutations in MUNC18-2 (STXBP2; <a href="/entry/601717">601717</a>) or STX11 abolish cytotoxic C lymphocytes (CTLs) and natural killer (NK) cell cytotoxicity, resulting in immunodeficiency (see MOLECULAR GENETICS). Using purified recombinant proteins, <a href="#2" class="mim-tip-reference" title="Hackmann, Y., Graham, S. C., Ehl, S., Honing, S., Lehmberg, K., Arico, M., Owen, D. J., Griffiths, G. M. <strong>Syntaxin binding mechanism and disease-causing mutations in Munc18-2.</strong> Proc. Nat. Acad. Sci. 110: E4482-E4491, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24194549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24194549</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24194549[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/10.1073/pnas.1313474110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24194549">Hackmann et al. (2013)</a> showed that human MUNC18-2 and STX11 interacted directly and that the interaction was facilitated by the NHABC domain of STX11. The authors presented evidence that, in the absence of STX11, STX3 (<a href="/entry/600876">600876</a>) could interact with MUNC18-2 in activated NK cells to compensate for the missing step required for cytotoxicity. Similarly, MUNC18-1 (STXBP1; <a href="/entry/602926">602926</a>) likely compensated for loss MUNC18-2, as MUNC18-1 was expressed in human CTLs and NK cells and interacted with STX3 and STX11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24194549" 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>Familial hemophagocytic lymphohistiocytosis (FHL; <a href="/entry/267700">267700</a>) is an autosomal recessive disease that presents as a severe hyperinflammatory syndrome with activated macrophages and T lymphocytes. <a href="#9" class="mim-tip-reference" title="Zur Stadt, U., Schmidt, S., Kasper, B., Beutel, K., Diler, A. S., Henter, J. I., Kabisch, H., Schneppenheim, R., Nurnberg, P., Janka, G., Hennies, H. C. <strong>Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.</strong> Hum. Molec. Genet. 14: 827-834, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15703195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15703195</a>] [<a href="https://doi.org/10.1093/hmg/ddi076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15703195">Zur Stadt et al. (2005)</a> mapped one form of FHL (FHL4; <a href="/entry/603552">603552</a>) to chromosome 6q24 by homozygosity mapping. They identified a 5-bp deletion (<a href="#0001">605014.0001</a>), a large genomic deletion (<a href="#0002">605014.0002</a>), and a nonsense mutation (Q268X; <a href="#0003">605014.0003</a>) in the STX11 gene, which maps to the 6q24 region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15703195" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a mutation analysis in a group of 63 unrelated patients with FHL of different geographic origins, <a href="#8" class="mim-tip-reference" title="Zur Stadt, U., Beutel, K., Kolberg, S., Schneppenheim, R., Kabisch, H., Janka, G., Hennies, H. C. <strong>Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.</strong> Hum. Mutat. 27: 62-68, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16278825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16278825</a>] [<a href="https://doi.org/10.1002/humu.20274" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16278825">Zur Stadt et al. (2006)</a> found 6 mutations in the STX11 gene, all in patients of Kurdish origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16278825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Yamamoto, K., Ishii, E., Horiuchi, H., Ueda, I., Ohga, S., Nishi, M., Ogata, Y., Zaitsu, M., Morimoto, A., Hara, T., Imashuku, S., Sasazuki, T., Yasukawa, M. <strong>Mutations of syntaxin 11 and SNAP23 as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people.</strong> J. Hum. Genet. 50: 600-603, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16180048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16180048</a>] [<a href="https://doi.org/10.1007/s10038-005-0293-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16180048">Yamamoto et al. (2005)</a> excluded mutations in the STX11 gene in 30 Japanese patients with FHL. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16180048" 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="Rudd, E., Goransdotter Ericson, K., Zheng, C., Uysal, Z., Ozkan, A., Gurgey, A., Fadeel, B., Nordenskjold, M., Henter, J.-I. <strong>Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.</strong> J. Med. Genet. 43: e14, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582076</a>] [<a href="https://doi.org/10.1136/jmg.2005.035253" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16582076">Rudd et al. (2006)</a> analyzed the STX11 gene in 34 patients with FHL from 28 unrelated families in whom PRF1 (<a href="/entry/170280">170280</a>) mutations had been excluded, including 2 families previously reported by <a href="#9" class="mim-tip-reference" title="Zur Stadt, U., Schmidt, S., Kasper, B., Beutel, K., Diler, A. S., Henter, J. I., Kabisch, H., Schneppenheim, R., Nurnberg, P., Janka, G., Hennies, H. C. <strong>Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.</strong> Hum. Molec. Genet. 14: 827-834, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15703195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15703195</a>] [<a href="https://doi.org/10.1093/hmg/ddi076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15703195">Zur Stadt et al. (2005)</a>. They identified homozygosity for the 5-bp deletion and the Q268X mutation in a Turkish brother and sister and an unrelated Turkish boy, respectively. They noted that 13 individuals from 8 Turkish families had been shown to carry STX11 mutations to that date. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15703195+16582076" 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 3 unrelated Pakistani children with FHL4, each born of consanguineous parents, <a href="#3" class="mim-tip-reference" title="Muller, M.-L., Chiang, S. C. C., Meeths, M., Tesi, B., Entesarian, M., Nilsson, D., Wood, S. M., Nordenskjold, M., Henter, J.-I., Naqvi, A., Bryceson, Y. T. <strong>An N-terminal missense mutation in STX11 causative of FHL4 abrogates syntaxin-11 binding to Munc18-2.</strong> Front. Immun. 4: 515, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24459464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24459464</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24459464[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/10.3389/fimmu.2013.00515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24459464">Muller et al. (2014)</a> identified a homozygous missense mutation in the STX11 gene (L58P; <a href="#0004">605014.0004</a>). Peripheral blood cells, including NK cells, from 1 of the patients showed significantly decreased STX11 protein levels compared to controls. In vitro functional expression studies in HEK293 cells showed that the mutant L58P protein was expressed, but did not bind to STXBP2 (<a href="/entry/601717">601717</a>). In contrast, the C-terminal Q268X mutant protein (<a href="#0003">605014.0003</a>) did not show impaired binding to STXBP2. <a href="#3" class="mim-tip-reference" title="Muller, M.-L., Chiang, S. C. C., Meeths, M., Tesi, B., Entesarian, M., Nilsson, D., Wood, S. M., Nordenskjold, M., Henter, J.-I., Naqvi, A., Bryceson, Y. T. <strong>An N-terminal missense mutation in STX11 causative of FHL4 abrogates syntaxin-11 binding to Munc18-2.</strong> Front. Immun. 4: 515, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24459464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24459464</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24459464[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/10.3389/fimmu.2013.00515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24459464">Muller et al. (2014)</a> suggested that the impaired binding to STXBP2 may have led to degradation of the mutant L58P STX11 protein. The patients presented in infancy or early childhood with clinical and laboratory evidence of a hyperinflammatory state. Resting patient NK cells showed defective lytic activity and impaired degranulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24459464" 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="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>4 Selected Examples</a>):</strong>
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<a href="/allelicVariants/605014" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605014[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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<strong>.0001 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4</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">rs483352901 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs483352901;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=rs483352901" 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=rs483352901" 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=RCV000005579 OR RCV001269556" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005579, RCV001269556" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005579...</a>
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<p><a href="#9" class="mim-tip-reference" title="Zur Stadt, U., Schmidt, S., Kasper, B., Beutel, K., Diler, A. S., Henter, J. I., Kabisch, H., Schneppenheim, R., Nurnberg, P., Janka, G., Hennies, H. C. <strong>Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.</strong> Hum. Molec. Genet. 14: 827-834, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15703195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15703195</a>] [<a href="https://doi.org/10.1093/hmg/ddi076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15703195">Zur Stadt et al. (2005)</a> identified a homozygous deletion of 5 nucleotides (369_370delAG, 374_376delCGC) in exon 2 of the STX11 gene in a large family of Kurdish origin in Turkey as the basis of familial hemophagocytic lymphohistiocytosis (FHL4; <a href="/entry/603552">603552</a>). The total deletion of 5 basepairs led to a frameshift and premature termination after 59 altered residues (Val124fsTer60). This mutation was identified in 2 additional families of Kurdish origin. <a href="#4" class="mim-tip-reference" title="Rudd, E., Goransdotter Ericson, K., Zheng, C., Uysal, Z., Ozkan, A., Gurgey, A., Fadeel, B., Nordenskjold, M., Henter, J.-I. <strong>Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.</strong> J. Med. Genet. 43: e14, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582076</a>] [<a href="https://doi.org/10.1136/jmg.2005.035253" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16582076">Rudd et al. (2006)</a> noted that 1 of the brothers from the large Kurdish family developed myelodysplastic syndrome 6 years after the diagnosis of FHL; both brothers had more than 1 year of remission without specific treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15703195+16582076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Turkish brother and sister with familial hemophagocytic lymphohistiocytosis, <a href="#4" class="mim-tip-reference" title="Rudd, E., Goransdotter Ericson, K., Zheng, C., Uysal, Z., Ozkan, A., Gurgey, A., Fadeel, B., Nordenskjold, M., Henter, J.-I. <strong>Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.</strong> J. Med. Genet. 43: e14, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582076</a>] [<a href="https://doi.org/10.1136/jmg.2005.035253" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16582076">Rudd et al. (2006)</a> identified homozygosity for 369_370delAG and 374_276delCGC mutation. Both children had severe psychomotor retardation, and the girl died at age 14 months at home with fever and cough. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16582076" 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>.0002 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4</strong>
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STX11, 19.2-KB DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000005580" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005580" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005580</a>
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<p>In affected members of a Turkish family of Kurdish origin with familial hemophagocytic lymphohistiocytosis (FHL4; <a href="/entry/603552">603552</a>), <a href="#9" class="mim-tip-reference" title="Zur Stadt, U., Schmidt, S., Kasper, B., Beutel, K., Diler, A. S., Henter, J. I., Kabisch, H., Schneppenheim, R., Nurnberg, P., Janka, G., Hennies, H. C. <strong>Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.</strong> Hum. Molec. Genet. 14: 827-834, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15703195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15703195</a>] [<a href="https://doi.org/10.1093/hmg/ddi076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15703195">Zur Stadt et al. (2005)</a> identified a deletion of 19,189 basepairs in the STX11 gene, including part of intron 1 and the entire coding region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15703195" 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 id="0003" class="mim-anchor"></a>
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<strong>.0003 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4</strong>
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STX11, GLN268TER
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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> rs104893996 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893996;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/rs104893996?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=rs104893996" 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=rs104893996" 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=RCV000005581" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005581" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005581</a>
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<p>In 2 Turkish families of Kurdish origin with familial hemophagocytic lymphohistiocytosis (FHL4; <a href="/entry/603552">603552</a>), <a href="#9" class="mim-tip-reference" title="Zur Stadt, U., Schmidt, S., Kasper, B., Beutel, K., Diler, A. S., Henter, J. I., Kabisch, H., Schneppenheim, R., Nurnberg, P., Janka, G., Hennies, H. C. <strong>Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.</strong> Hum. Molec. Genet. 14: 827-834, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15703195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15703195</a>] [<a href="https://doi.org/10.1093/hmg/ddi076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15703195">Zur Stadt et al. (2005)</a> identified a C-to-T transition at nucleotide position 802 of the STX11 gene that resulted in premature termination at gln268 (Q268X). <a href="#4" class="mim-tip-reference" title="Rudd, E., Goransdotter Ericson, K., Zheng, C., Uysal, Z., Ozkan, A., Gurgey, A., Fadeel, B., Nordenskjold, M., Henter, J.-I. <strong>Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.</strong> J. Med. Genet. 43: e14, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582076</a>] [<a href="https://doi.org/10.1136/jmg.2005.035253" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16582076">Rudd et al. (2006)</a> noted that a girl from 1 of the families reported by <a href="#9" class="mim-tip-reference" title="Zur Stadt, U., Schmidt, S., Kasper, B., Beutel, K., Diler, A. S., Henter, J. I., Kabisch, H., Schneppenheim, R., Nurnberg, P., Janka, G., Hennies, H. C. <strong>Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.</strong> Hum. Molec. Genet. 14: 827-834, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15703195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15703195</a>] [<a href="https://doi.org/10.1093/hmg/ddi076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15703195">Zur Stadt et al. (2005)</a> had developed acute myelogenous leukemia but was alive and in remission from AML and FHL at the time of writing. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15703195+16582076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Turkish boy with familial hemophagocytic lymphohistiocytosis, <a href="#4" class="mim-tip-reference" title="Rudd, E., Goransdotter Ericson, K., Zheng, C., Uysal, Z., Ozkan, A., Gurgey, A., Fadeel, B., Nordenskjold, M., Henter, J.-I. <strong>Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.</strong> J. Med. Genet. 43: e14, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16582076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16582076</a>] [<a href="https://doi.org/10.1136/jmg.2005.035253" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16582076">Rudd et al. (2006)</a> identified homozygosity for the Q268X mutation. The boy had more than a year in remission without specific treatment, but died at age 12 years due to hemorrhage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16582076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4</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> rs431905512 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs431905512;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/rs431905512?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=rs431905512" 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=rs431905512" 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=RCV000083252 OR RCV001269565 OR RCV004700400" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000083252, RCV001269565, RCV004700400" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000083252...</a>
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<p>In 3 unrelated Pakistani children with familial hemophagocytic lymphohistiocytosis (FHL4; <a href="/entry/603552">603552</a>), each born of consanguineous parents, <a href="#3" class="mim-tip-reference" title="Muller, M.-L., Chiang, S. C. C., Meeths, M., Tesi, B., Entesarian, M., Nilsson, D., Wood, S. M., Nordenskjold, M., Henter, J.-I., Naqvi, A., Bryceson, Y. T. <strong>An N-terminal missense mutation in STX11 causative of FHL4 abrogates syntaxin-11 binding to Munc18-2.</strong> Front. Immun. 4: 515, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24459464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24459464</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24459464[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/10.3389/fimmu.2013.00515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24459464">Muller et al. (2014)</a> identified a homozygous c.173T-C transition in the STX11 gene, resulting in a leu58-to-pro (L58P) substitution in the first alpha-helix of the conserved N-terminal Habc domain. All of the parents were unaffected and heterozygous for the mutation. Peripheral blood cells, including NK cells, from 1 of the patients showed significantly decreased STX11 protein levels compared to controls. In vitro functional expression studies in HEK293 cells showed that the mutant L58P protein was expressed, but did not bind to STXBP2 (<a href="/entry/601717">601717</a>). In contrast, the C-terminal Q268X mutant protein (<a href="#0003">605014.0003</a>) did not show impaired binding to STXBP2. <a href="#3" class="mim-tip-reference" title="Muller, M.-L., Chiang, S. C. C., Meeths, M., Tesi, B., Entesarian, M., Nilsson, D., Wood, S. M., Nordenskjold, M., Henter, J.-I., Naqvi, A., Bryceson, Y. T. <strong>An N-terminal missense mutation in STX11 causative of FHL4 abrogates syntaxin-11 binding to Munc18-2.</strong> Front. Immun. 4: 515, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24459464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24459464</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24459464[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/10.3389/fimmu.2013.00515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24459464">Muller et al. (2014)</a> suggested that the impaired binding to STXBP2 may have led to degradation of the mutant L58P STX11 protein. The patients presented in infancy or early childhood with clinical and laboratory evidence of a hyperinflammatory state. Resting patient NK cells showed defective lytic activity and impaired degranulation. One of the patients also carried a heterozygous P271S variant in the UNC13D gene (<a href="/entry/608897">608897</a>) (frequency of 0.001 among Caucasians) and a homozygous R928C variant in the UNC13D gene (frequency of 0.01 among Caucasians); this patient had the earliest onset, at age 2 months. Two of the patients died in childhood, and the third was lost to follow-up. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24459464" 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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Muller, M.-L., Chiang, S. C. C., Meeths, M., Tesi, B., Entesarian, M., Nilsson, D., Wood, S. M., Nordenskjold, M., Henter, J.-I., Naqvi, A., Bryceson, Y. T.
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<strong>An N-terminal missense mutation in STX11 causative of FHL4 abrogates syntaxin-11 binding to Munc18-2.</strong>
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Front. Immun. 4: 515, 2014. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24459464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24459464</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24459464[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=24459464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Zur Stadt, U., Schmidt, S., Kasper, B., Beutel, K., Diler, A. S., Henter, J. I., Kabisch, H., Schneppenheim, R., Nurnberg, P., Janka, G., Hennies, H. C.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15703195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15703195</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15703195" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - updated : 2/4/2014<br>Marla J. F. O'Neill - updated : 7/12/2006<br>Cassandra L. Kniffin - updated : 3/13/2006<br>George E. Tiller - updated : 3/9/2006<br>Victor A. McKusick - updated : 1/20/2006
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mgross : 08/12/2021<br>carol : 06/19/2018<br>carol : 02/12/2014<br>carol : 2/6/2014<br>mcolton : 2/4/2014<br>ckniffin : 2/4/2014<br>carol : 3/28/2007<br>wwang : 8/3/2006<br>wwang : 7/12/2006<br>wwang : 5/25/2006<br>ckniffin : 3/13/2006<br>alopez : 3/9/2006<br>alopez : 3/9/2006<br>terry : 1/20/2006<br>carol : 6/1/2000<br>carol : 5/31/2000
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<h3>
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<span class="mim-font">
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SYNTAXIN 11; STX11
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: STX11</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>
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<em>
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Cytogenetic location: 6q24.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 6:144,139,963-144,191,939 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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6q24.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Hemophagocytic lymphohistiocytosis, familial, 4
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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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603552
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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 STX11 gene encodes syntaxin-11, a protein involved in vesicle exocytosis. Syntaxin-11 contains a C-terminal SNARE domain (summary by Muller et al., 2014). SNARE proteins play a role in regulating intracellular protein transport between donor and target membranes. This docking and fusion process involves the interaction of specific vesicle-SNAREs (e.g., VAMP, 603177) with specific cognate target-SNAREs (e.g., SNAP23, 602534) (summary by Valdez et al., 1999). </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>Advani et al. (1998) and Tang et al. (1998) identified human syntaxin-11 by searching EST databases for clones with sequence similarity to other syntaxin proteins. Both groups found that STX11 encodes a deduced 287-amino acid protein with several predicted coiled-coil domains. Unlike most membrane-associated proteins, STX11 lacks a hydrophobic domain but contains a cysteine-rich C terminus. Like SNAP25 (600322), STX11 may be anchored to membranes by palmitoylated cysteines. By Northern blot analysis, Tang et al. (1998) identified 2 STX11 transcripts of approximately 0.8 and 1.7 kb that are particularly abundant in heart and placenta and are detectable at low levels in other tissues but not in brain. </p><p>Using a yeast 2-hybrid system to screen a human B-lymphocyte cDNA library with SNAP23 as bait, Valdez et al. (1999) cloned STX11. They determined that STX11 has a molecular mass of 35 kD and is an integral membrane protein despite the lack of a traditional transmembrane domain. Both transfected and endogenous STX11 binds to SNAP23 in vitro and in vivo. STX11 colocalizes with mannose 6-phosphate on late endosomes and the trans-Golgi network. Immunofluorescence microscopy showed that when the cysteine cluster at the C terminus of STX11 is deleted, the punctate intracellular structure does not differ from that of the wildtype protein, demonstrating that targeting and retention of STX11 on the intracellular membrane does not depend exclusively on amino acids in the cysteine-rich domain. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The STX11 gene consists of 2 exons and covers a genomic interval of 37 kb (Zur Stadt et al., 2005). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Mutations in MUNC18-2 (STXBP2; 601717) or STX11 abolish cytotoxic C lymphocytes (CTLs) and natural killer (NK) cell cytotoxicity, resulting in immunodeficiency (see MOLECULAR GENETICS). Using purified recombinant proteins, Hackmann et al. (2013) showed that human MUNC18-2 and STX11 interacted directly and that the interaction was facilitated by the NHABC domain of STX11. The authors presented evidence that, in the absence of STX11, STX3 (600876) could interact with MUNC18-2 in activated NK cells to compensate for the missing step required for cytotoxicity. Similarly, MUNC18-1 (STXBP1; 602926) likely compensated for loss MUNC18-2, as MUNC18-1 was expressed in human CTLs and NK cells and interacted with STX3 and STX11. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Familial hemophagocytic lymphohistiocytosis (FHL; 267700) is an autosomal recessive disease that presents as a severe hyperinflammatory syndrome with activated macrophages and T lymphocytes. Zur Stadt et al. (2005) mapped one form of FHL (FHL4; 603552) to chromosome 6q24 by homozygosity mapping. They identified a 5-bp deletion (605014.0001), a large genomic deletion (605014.0002), and a nonsense mutation (Q268X; 605014.0003) in the STX11 gene, which maps to the 6q24 region. </p><p>In a mutation analysis in a group of 63 unrelated patients with FHL of different geographic origins, Zur Stadt et al. (2006) found 6 mutations in the STX11 gene, all in patients of Kurdish origin. </p><p>Yamamoto et al. (2005) excluded mutations in the STX11 gene in 30 Japanese patients with FHL. </p><p>Rudd et al. (2006) analyzed the STX11 gene in 34 patients with FHL from 28 unrelated families in whom PRF1 (170280) mutations had been excluded, including 2 families previously reported by Zur Stadt et al. (2005). They identified homozygosity for the 5-bp deletion and the Q268X mutation in a Turkish brother and sister and an unrelated Turkish boy, respectively. They noted that 13 individuals from 8 Turkish families had been shown to carry STX11 mutations to that date. </p><p>In 3 unrelated Pakistani children with FHL4, each born of consanguineous parents, Muller et al. (2014) identified a homozygous missense mutation in the STX11 gene (L58P; 605014.0004). Peripheral blood cells, including NK cells, from 1 of the patients showed significantly decreased STX11 protein levels compared to controls. In vitro functional expression studies in HEK293 cells showed that the mutant L58P protein was expressed, but did not bind to STXBP2 (601717). In contrast, the C-terminal Q268X mutant protein (605014.0003) did not show impaired binding to STXBP2. Muller et al. (2014) suggested that the impaired binding to STXBP2 may have led to degradation of the mutant L58P STX11 protein. The patients presented in infancy or early childhood with clinical and laboratory evidence of a hyperinflammatory state. Resting patient NK cells showed defective lytic activity and impaired degranulation. </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>4 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
STX11, 5-BP DEL
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|
|
<br />
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|
|
SNP: rs483352901,
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|
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ClinVar: RCV000005579, RCV001269556
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|
|
</span>
|
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</div>
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Zur Stadt et al. (2005) identified a homozygous deletion of 5 nucleotides (369_370delAG, 374_376delCGC) in exon 2 of the STX11 gene in a large family of Kurdish origin in Turkey as the basis of familial hemophagocytic lymphohistiocytosis (FHL4; 603552). The total deletion of 5 basepairs led to a frameshift and premature termination after 59 altered residues (Val124fsTer60). This mutation was identified in 2 additional families of Kurdish origin. Rudd et al. (2006) noted that 1 of the brothers from the large Kurdish family developed myelodysplastic syndrome 6 years after the diagnosis of FHL; both brothers had more than 1 year of remission without specific treatment. </p><p>In a Turkish brother and sister with familial hemophagocytic lymphohistiocytosis, Rudd et al. (2006) identified homozygosity for 369_370delAG and 374_276delCGC mutation. Both children had severe psychomotor retardation, and the girl died at age 14 months at home with fever and cough. </p>
|
|
</span>
|
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
STX11, 19.2-KB DEL
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|
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|
|
<br />
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|
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ClinVar: RCV000005580
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</span>
|
|
</div>
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a Turkish family of Kurdish origin with familial hemophagocytic lymphohistiocytosis (FHL4; 603552), Zur Stadt et al. (2005) identified a deletion of 19,189 basepairs in the STX11 gene, including part of intron 1 and the entire coding region. </p>
|
|
</span>
|
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</div>
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<div>
|
|
<br />
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</div>
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
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|
|
STX11, GLN268TER
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<br />
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|
|
SNP: rs104893996,
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gnomAD: rs104893996,
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|
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ClinVar: RCV000005581
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Turkish families of Kurdish origin with familial hemophagocytic lymphohistiocytosis (FHL4; 603552), Zur Stadt et al. (2005) identified a C-to-T transition at nucleotide position 802 of the STX11 gene that resulted in premature termination at gln268 (Q268X). Rudd et al. (2006) noted that a girl from 1 of the families reported by Zur Stadt et al. (2005) had developed acute myelogenous leukemia but was alive and in remission from AML and FHL at the time of writing. </p><p>In a Turkish boy with familial hemophagocytic lymphohistiocytosis, Rudd et al. (2006) identified homozygosity for the Q268X mutation. The boy had more than a year in remission without specific treatment, but died at age 12 years due to hemorrhage. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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<strong>.0004 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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STX11, LEU58PRO
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<br />
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SNP: rs431905512,
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gnomAD: rs431905512,
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ClinVar: RCV000083252, RCV001269565, RCV004700400
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 unrelated Pakistani children with familial hemophagocytic lymphohistiocytosis (FHL4; 603552), each born of consanguineous parents, Muller et al. (2014) identified a homozygous c.173T-C transition in the STX11 gene, resulting in a leu58-to-pro (L58P) substitution in the first alpha-helix of the conserved N-terminal Habc domain. All of the parents were unaffected and heterozygous for the mutation. Peripheral blood cells, including NK cells, from 1 of the patients showed significantly decreased STX11 protein levels compared to controls. In vitro functional expression studies in HEK293 cells showed that the mutant L58P protein was expressed, but did not bind to STXBP2 (601717). In contrast, the C-terminal Q268X mutant protein (605014.0003) did not show impaired binding to STXBP2. Muller et al. (2014) suggested that the impaired binding to STXBP2 may have led to degradation of the mutant L58P STX11 protein. The patients presented in infancy or early childhood with clinical and laboratory evidence of a hyperinflammatory state. Resting patient NK cells showed defective lytic activity and impaired degranulation. One of the patients also carried a heterozygous P271S variant in the UNC13D gene (608897) (frequency of 0.001 among Caucasians) and a homozygous R928C variant in the UNC13D gene (frequency of 0.01 among Caucasians); this patient had the earliest onset, at age 2 months. Two of the patients died in childhood, and the third was lost to follow-up. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
<div>
|
|
<ol>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Advani, R. J., Bae, H.-R., Bock, J. B., Chao, D. S., Doung, Y.-C., Prekeris, R., Yoo, J.-S., Scheller, R. H.
|
|
<strong>Seven novel mammalian SNARE proteins localize to distinct membrane compartments.</strong>
|
|
J. Biol. Chem. 273: 10317-10324, 1998.
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[PubMed: 9553086]
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[Full Text: https://doi.org/10.1074/jbc.273.17.10317]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Hackmann, Y., Graham, S. C., Ehl, S., Honing, S., Lehmberg, K., Arico, M., Owen, D. J., Griffiths, G. M.
|
|
<strong>Syntaxin binding mechanism and disease-causing mutations in Munc18-2.</strong>
|
|
Proc. Nat. Acad. Sci. 110: E4482-E4491, 2013.
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[PubMed: 24194549]
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[Full Text: https://doi.org/10.1073/pnas.1313474110]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Muller, M.-L., Chiang, S. C. C., Meeths, M., Tesi, B., Entesarian, M., Nilsson, D., Wood, S. M., Nordenskjold, M., Henter, J.-I., Naqvi, A., Bryceson, Y. T.
|
|
<strong>An N-terminal missense mutation in STX11 causative of FHL4 abrogates syntaxin-11 binding to Munc18-2.</strong>
|
|
Front. Immun. 4: 515, 2014. Note: Electronic Article.
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|
|
[PubMed: 24459464]
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[Full Text: https://doi.org/10.3389/fimmu.2013.00515]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Rudd, E., Goransdotter Ericson, K., Zheng, C., Uysal, Z., Ozkan, A., Gurgey, A., Fadeel, B., Nordenskjold, M., Henter, J.-I.
|
|
<strong>Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.</strong>
|
|
J. Med. Genet. 43: e14, 2006.
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[PubMed: 16582076]
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[Full Text: https://doi.org/10.1136/jmg.2005.035253]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Tang, B. L., Low, D. Y. H., Hong, W.
|
|
<strong>Syntaxin 11: a member of the syntaxin family without a carboxyl terminal transmembrane domain.</strong>
|
|
Biochem. Biophys. Res. Commun. 245: 627-632, 1998.
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[PubMed: 9571206]
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[Full Text: https://doi.org/10.1006/bbrc.1998.8490]
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Valdez, A. C., Cabaniols, J.-P., Brown, M. J., Roche, P. A.
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<strong>Syntaxin 11 is associated with SNAP-23 on late endosomes and the trans-Golgi network.</strong>
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J. Cell Sci. 112: 845-854, 1999.
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[PubMed: 10036234]
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[Full Text: https://doi.org/10.1242/jcs.112.6.845]
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Yamamoto, K., Ishii, E., Horiuchi, H., Ueda, I., Ohga, S., Nishi, M., Ogata, Y., Zaitsu, M., Morimoto, A., Hara, T., Imashuku, S., Sasazuki, T., Yasukawa, M.
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<strong>Mutations of syntaxin 11 and SNAP23 as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people.</strong>
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J. Hum. Genet. 50: 600-603, 2005.
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[PubMed: 16180048]
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[Full Text: https://doi.org/10.1007/s10038-005-0293-1]
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Zur Stadt, U., Beutel, K., Kolberg, S., Schneppenheim, R., Kabisch, H., Janka, G., Hennies, H. C.
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<strong>Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.</strong>
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Hum. Mutat. 27: 62-68, 2006.
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[PubMed: 16278825]
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[Full Text: https://doi.org/10.1002/humu.20274]
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Zur Stadt, U., Schmidt, S., Kasper, B., Beutel, K., Diler, A. S., Henter, J. I., Kabisch, H., Schneppenheim, R., Nurnberg, P., Janka, G., Hennies, H. C.
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<strong>Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.</strong>
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Hum. Molec. Genet. 14: 827-834, 2005.
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[PubMed: 15703195]
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[Full Text: https://doi.org/10.1093/hmg/ddi076]
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Bao Lige - updated : 08/12/2021<br>Cassandra L. Kniffin - updated : 2/4/2014<br>Marla J. F. O'Neill - updated : 7/12/2006<br>Cassandra L. Kniffin - updated : 3/13/2006<br>George E. Tiller - updated : 3/9/2006<br>Victor A. McKusick - updated : 1/20/2006
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Yen-Pei C. Chang : 5/25/2000
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