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Entry
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- *607111 - SPARTIN; SPART
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- OMIM
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<div id="mimAlertBanner">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*607111</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<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="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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/607111">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>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000133104;t=ENST00000438666" 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=23111" 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=607111" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000133104;t=ENST00000438666" 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_001142294,NM_001142295,NM_001142296,NM_015087,XM_005266313,XM_005266314,XM_005266315,XM_005266317,XM_011535012,XM_024449334,XM_047430209,XM_047430210,XM_047430211,XM_047430212,XM_047430213,XR_007063671" 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_015087" 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=607111" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=06170&isoform_id=06170_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/SPART" 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/21654723,21654738,21703346,22074832,22074842,28436885,50401600,51981720,119628963,119628964,119628965,119628966,119628967,119628968,158256880,193785595,193786019,194378664,214830079,214830109,214830187,530402210,530402212,530402214,530402218,767977505,929654046,957950896,957950899,1370463748,2217293934,2217293938,2217293942,2217293944,2217293946,2462536604,2462536606,2462536608,2462536610,2462536612,2462536614,2462536616,2462536618,2462536620,2462536622,2462536624,2462536626" 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/Q8N0X7" 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=23111" 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=ENSG00000133104;t=ENST00000438666" 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=SPART" 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=SPART" 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+23111" 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/SPART" 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:23111" 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/23111" 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=chr13&hgg_gene=ENST00000438666.7&hgg_start=36301638&hgg_end=36370180&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:18514" 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://medlineplus.gov/genetics/gene/spart" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607111[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607111[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/SPART/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000133104" 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=SPART" 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=SPART" 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=SPART" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SPART&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/PA134871645" 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:18514" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0037265.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2139806" 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/SPART#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:2139806" 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/23111/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=23111" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00019006;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-060825-146" 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">
|
|
<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:23111" 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=SPART&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 230264003<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
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607111
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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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SPARTIN; SPART
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</span>
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</h3>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
SPG20<br />
|
|
KIAA0610
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SPART" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SPART</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>
|
|
Cytogenetic location: <a href="/geneMap/13/97?start=-3&limit=10&highlight=97">13q13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr13:36301638-36370180&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'})">13:36,301,638-36,370,180</a> </span>
|
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</em>
|
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</strong>
|
|
<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>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
Phenotype
|
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/13/97?start=-3&limit=10&highlight=97">
|
|
13q13.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Troyer syndrome
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/275900"> 275900 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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>
|
|
</table>
|
|
</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/607111" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/607111" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<p>By positional cloning of a region implicated in Troyer syndrome (SPG20; <a href="/entry/275900">275900</a>), <a href="#6" class="mim-tip-reference" title="Patel, H., Cross, H., Proukakis, C., Hershberger, R., Bork, P., Ciccarelli, F. D., Patton, M. A., McKusick, V. A., Crosby, A. H. <strong>SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.</strong> Nature Genet. 31: 347-348, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12134148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12134148</a>] [<a href="https://doi.org/10.1038/ng937" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12134148">Patel et al. (2002)</a> identified a gene designated 'SPG20.' The SPG20 gene produces a 3,402-bp transcript encoding a 72.7-kD, 666-amino acid protein that the authors called spartin (spastic paraplegia autosomal recessive Troyer syndrome). Northern dot blot analysis showed that SPG20 is expressed ubiquitously, with highest expression in adipose tissue. Database analysis indicated that spartin shares sequence similarity with the N-terminal region of spastin (SPAST; <a href="/entry/604277">604277</a>), as well as with other proteins involved in the morphology and membrane trafficking of endosomes. One mechanism for endosomal transportation involves microtubules. Spastin, which is commonly mutated in autosomal dominant hereditary spastic paraplegia (SPG4; <a href="/entry/182601">182601</a>), associates with the microtubule cytoskeleton. Cells overexpressing spastin mutants show constitutive binding of abnormal spastin to microtubules, leading to redistribution of the microtubule array. The microtubule-binding capability of spastin appears to be located in its N-terminal region, which shares similarity with spartin. Thus, the data implicated spartin in endosomal trafficking, microtubule dynamics, or both, and suggested a functional link between 2 genes responsible for hereditary spastic paraplegia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12134148" 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="#1" class="mim-tip-reference" title="Bakowska, J. C., Jenkins, R., Pendleton, J., Blackstone, C. <strong>The Troyer syndrome (SPG20) protein spartin interacts with Eps15.</strong> Biochem. Biophys. Res. Commun. 334: 1042-1048, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16036216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16036216</a>] [<a href="https://doi.org/10.1016/j.bbrc.2005.06.201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16036216">Bakowska et al. (2005)</a> noted that in addition to the N-terminal microtubule-interacting and trafficking (MIT) domain, spartin contains a C-terminal plant-related region. By Western blot analysis of HeLa cell lysates, they showed that spartin had an apparent molecular mass of about 84 kD. In fractionated cells, spartin localized mainly to the cytosolic fraction, and a small amount was membrane-associated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16036216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#6" class="mim-tip-reference" title="Patel, H., Cross, H., Proukakis, C., Hershberger, R., Bork, P., Ciccarelli, F. D., Patton, M. A., McKusick, V. A., Crosby, A. H. <strong>SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.</strong> Nature Genet. 31: 347-348, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12134148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12134148</a>] [<a href="https://doi.org/10.1038/ng937" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12134148">Patel et al. (2002)</a> determined that the SPG20 gene contains 9 exons spanning 43.3 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12134148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#6" class="mim-tip-reference" title="Patel, H., Cross, H., Proukakis, C., Hershberger, R., Bork, P., Ciccarelli, F. D., Patton, M. A., McKusick, V. A., Crosby, A. H. <strong>SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.</strong> Nature Genet. 31: 347-348, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12134148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12134148</a>] [<a href="https://doi.org/10.1038/ng937" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12134148">Patel et al. (2002)</a> mapped the SPG20 gene to chromosome 13q12.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12134148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By multiple sequence alignment, <a href="#4" class="mim-tip-reference" title="Ciccarelli, F. D., Proukakis, C., Patel, H., Cross, H., Azam, S., Patton, M. A., Bork, P., Crosby, A. H. <strong>The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.</strong> Genomics 81: 437-441, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12676568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12676568</a>] [<a href="https://doi.org/10.1016/s0888-7543(03)00011-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12676568">Ciccarelli et al. (2003)</a> identified a sequence domain of approximately 80 amino acids in spartin and in spastin. The domain partially resembled that called ESP (<a href="#7" class="mim-tip-reference" title="Phillips, S. A., Barr, V. A., Haft, D. H., Taylor, S. I., Haft, C. R. <strong>Identification and characterization of SNX15, a novel sorting nexin involved in protein trafficking.</strong> J. Biol. Chem. 276: 5074-5084, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11085978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11085978</a>] [<a href="https://doi.org/10.1074/jbc.M004671200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11085978">Phillips et al., 2001</a>) which is found in proteins with a well established and consistent role in endosomal trafficking. Spastin is likely to be involved in microtubule interaction. <a href="#4" class="mim-tip-reference" title="Ciccarelli, F. D., Proukakis, C., Patel, H., Cross, H., Azam, S., Patton, M. A., Bork, P., Crosby, A. H. <strong>The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.</strong> Genomics 81: 437-441, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12676568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12676568</a>] [<a href="https://doi.org/10.1016/s0888-7543(03)00011-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12676568">Ciccarelli et al. (2003)</a> proposed a more descriptive name, MIT (contained within microtubule-interacting and trafficking molecules), for the domain and predicted endosomal trafficking as the principal functionality of all molecules in which it is present. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11085978+12676568" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By yeast 2-hybrid analysis, <a href="#1" class="mim-tip-reference" title="Bakowska, J. C., Jenkins, R., Pendleton, J., Blackstone, C. <strong>The Troyer syndrome (SPG20) protein spartin interacts with Eps15.</strong> Biochem. Biophys. Res. Commun. 334: 1042-1048, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16036216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16036216</a>] [<a href="https://doi.org/10.1016/j.bbrc.2005.06.201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16036216">Bakowska et al. (2005)</a> found that an N-terminal fragment of spartin interacted with EPS15 (<a href="/entry/600051">600051</a>), which was confirmed by protein pull-down and cellular redistribution assays. Mutation analysis showed that a 99-residue domain near the N terminus of spartin interacted with the C-terminal 65 amino acids of EPS15. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16036216" 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 PCR analysis, <a href="#5" class="mim-tip-reference" title="Manzini, M. C., Rajab, A., Maynard, T. M., Mochida, G. H., Tan, W.-H., Nasir, R., Hill, R. S., Gleason, D., Al Saffar, M., Partlow, J. N., Barry, B. J., Vernon, M., LaMantia, A.-S., Walsh, C. A. <strong>Developmental and degenerative features in a complicated spastic paraplegia.</strong> Ann. Neurol. 67: 516-525, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20437587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20437587</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20437587[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.21923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20437587">Manzini et al. (2010)</a> found SPG20 expression at modest levels in fetal and adult human brain, including the amygdala, cortex, and thalamus, with lower levels of expression in the hippocampus and cerebellum. Studies in mouse brain showed similar findings, except for higher expression in the hippocampus and expression in the spinal cord. In the mouse brain, Spg20 was found to be developmentally regulated, as expression was maximal at midgestation and embryonic day 10 and showed a precipitous decline thereafter. In situ studies in adult mouse brain showed Spg20 expression at low levels in neurons and glia of hippocampus and forebrain, and throughout the cerebellum, brainstem, and spinal cord. Shortly after neural tube closure, Spg20 was specifically expressed in the initial frontonasal mass/forebrain, craniofacial structures, aortic arch/heart primordium, and limb buds during morphogenesis, with lowest expression in the heart. These findings implicated a role for Spg20 in morphogenesis and differentiation at these sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20437587" 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="#8" class="mim-tip-reference" title="Renvoise, B., Parker, R. L., Yang, D., Bakowska, J. C., Hurley, J. H., Blackstone, C. <strong>SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis.</strong> Molec. Biol. Cell 21: 3293-3303, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20719964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20719964</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20719964[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1091/mbc.E09-10-0879" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20719964">Renvoise et al. (2010)</a> observed that IST1 (<a href="/entry/616434">616434</a>) bound with high affinity to spartin and that the 2 proteins colocalized to the ends of Flemming bodies during cytokinesis. Deletion analysis revealed that the N-terminal MIT domain of spartin interacted with the MIM1 domain of IST1. Depletion of IST1 in HeLa cells reduced the localization of both spartin and IST1 at midbodies, but depletion of spartin had little effect on IST1 localization. Depletion of either IST1 or spartin substantially increased the number of multinucleated cells, consistent with a defect in cytokinesis. Live cell imaging showed a failure of abscission with knockdown of either spartin or IST1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20719964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In Amish patients with Troyer syndrome, <a href="#6" class="mim-tip-reference" title="Patel, H., Cross, H., Proukakis, C., Hershberger, R., Bork, P., Ciccarelli, F. D., Patton, M. A., McKusick, V. A., Crosby, A. H. <strong>SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.</strong> Nature Genet. 31: 347-348, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12134148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12134148</a>] [<a href="https://doi.org/10.1038/ng937" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12134148">Patel et al. (2002)</a> identified a homozygous 1-bp deletion (<a href="#0001">607111.0001</a>) in the SPG20 gene. The findings were consistent with a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12134148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a large Omani kindred with SPG20, <a href="#5" class="mim-tip-reference" title="Manzini, M. C., Rajab, A., Maynard, T. M., Mochida, G. H., Tan, W.-H., Nasir, R., Hill, R. S., Gleason, D., Al Saffar, M., Partlow, J. N., Barry, B. J., Vernon, M., LaMantia, A.-S., Walsh, C. A. <strong>Developmental and degenerative features in a complicated spastic paraplegia.</strong> Ann. Neurol. 67: 516-525, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20437587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20437587</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20437587[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.21923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20437587">Manzini et al. (2010)</a> identified a homozygous 2-bp deletion (<a href="#0002">607111.0002</a>) in the SPG20 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20437587" 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 patients of Filipino descent, including 2 sisters, <a href="#3" class="mim-tip-reference" title="Butler, S., Helbig, K. L., Alcaraz, W., Seaver, L. H., Hsieh, D. T., Rohena, L. <strong>Three cases of Troyer syndrome in two families of Filipino descent.</strong> Am. J. Med. Genet. 170A: 1780-1785, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27112432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27112432</a>] [<a href="https://doi.org/10.1002/ajmg.a.37658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27112432">Butler et al. (2016)</a> identified a homozygous frameshift mutation in the SPG20 gene (<a href="#0002">607111.0002</a>). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Functional studies of the variant and studies of patient cells were not performed, but the mutation was the same as that identified in Omani and Turkish SPG20 kindreds (<a href="#5" class="mim-tip-reference" title="Manzini, M. C., Rajab, A., Maynard, T. M., Mochida, G. H., Tan, W.-H., Nasir, R., Hill, R. S., Gleason, D., Al Saffar, M., Partlow, J. N., Barry, B. J., Vernon, M., LaMantia, A.-S., Walsh, C. A. <strong>Developmental and degenerative features in a complicated spastic paraplegia.</strong> Ann. Neurol. 67: 516-525, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20437587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20437587</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20437587[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.21923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20437587">Manzini et al., 2010</a> and <a href="#9" class="mim-tip-reference" title="Tawamie, H., Wohlleber, E., Uebe, S., Schmal, C., Nothen, M. M., Jamra, R. A. <strong>Recurrent null mutation in SPG20 leads to Troyer syndrome.</strong> Molec. Cell. Probes 29: 315-318, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26003402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26003402</a>] [<a href="https://doi.org/10.1016/j.mcp.2015.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26003402">Tawamie et al., 2015</a>), confirming the pathogenicity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20437587+27112432+26003402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1060499524 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1060499524;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/rs1060499524?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=rs1060499524" 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=rs1060499524" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In Amish patients with Troyer syndrome (<a href="/entry/275900">275900</a>), <a href="#6" class="mim-tip-reference" title="Patel, H., Cross, H., Proukakis, C., Hershberger, R., Bork, P., Ciccarelli, F. D., Patton, M. A., McKusick, V. A., Crosby, A. H. <strong>SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.</strong> Nature Genet. 31: 347-348, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12134148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12134148</a>] [<a href="https://doi.org/10.1038/ng937" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12134148">Patel et al. (2002)</a> identified a homozygous 1-bp deletion (1110delA) in exon 4 of the SPG20, predicted to result in a truncated protein. Sequencing of RNA from lymphocytes from affected individuals, carrier parents, and normal controls showed the mutation in the RNA transcripts in individuals with Troyer syndrome. The mutation was not found in 760 normal control chromosomes of mixed Caucasian, Asian, and African descent or in 100 chromosomes from individuals from the same and neighboring Amish communities who were not close relatives of the individuals with Troyer syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12134148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bakowska, J. C., Wang, H., Xin, B., Sumner, C. J., Blackstone, C. <strong>Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?</strong> Arch. Neurol. 65: 520-524, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18413476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18413476</a>] [<a href="https://doi.org/10.1001/archneur.65.4.520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18413476">Bakowska et al. (2008)</a> identified the 1110delA mutation in 2 Amish sibs with Troyer syndrome. Studies on patient fibroblasts and lymphoblasts showed spartin mRNA transcripts, but no translated protein, consistent with complete loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18413476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003622 OR RCV000624566 OR RCV001090324 OR RCV002273920" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003622, RCV000624566, RCV001090324, RCV002273920" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003622...</a>
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<p>In affected individuals from a large Omani kindred with SPG20 (<a href="/entry/275900">275900</a>), <a href="#5" class="mim-tip-reference" title="Manzini, M. C., Rajab, A., Maynard, T. M., Mochida, G. H., Tan, W.-H., Nasir, R., Hill, R. S., Gleason, D., Al Saffar, M., Partlow, J. N., Barry, B. J., Vernon, M., LaMantia, A.-S., Walsh, C. A. <strong>Developmental and degenerative features in a complicated spastic paraplegia.</strong> Ann. Neurol. 67: 516-525, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20437587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20437587</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20437587[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.21923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20437587">Manzini et al. (2010)</a> identified a homozygous 2-bp deletion (c.364_365delAT) in the first coding exon of the SPG20 gene, resulting in a frameshift and premature termination. Unaffected family members were heterozygous for the mutation, which was not found in 96 controls. The phenotype included lower limb spasticity and hyperreflexia, short stature, dysarthria, and delayed motor and cognitive development. Studies in patient lymphoblastoid cells confirmed lack of the protein consistent with a null mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20437587" 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="#9" class="mim-tip-reference" title="Tawamie, H., Wohlleber, E., Uebe, S., Schmal, C., Nothen, M. M., Jamra, R. A. <strong>Recurrent null mutation in SPG20 leads to Troyer syndrome.</strong> Molec. Cell. Probes 29: 315-318, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26003402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26003402</a>] [<a href="https://doi.org/10.1016/j.mcp.2015.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26003402">Tawamie et al. (2015)</a> identified a homozygous c.364_365delAT mutation (c.364delAT, NM_001142294) (Met122ValfsTer2) in exon 2 of the SPG20 gene in 2 sibs, born of consanguineous Turkish parents, with SPG20. The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The variant was filtered against the 1000 Genomes Project and Exome Variant Server database and over 600 in-house exomes. The variant was present as a heterozygous variant in 6 individuals from the ExAC database. Functional studies and studies of patient cells were not performed. Haplotype analysis indicated that the mutation occurred independently from that in the Omani patients reported by <a href="#5" class="mim-tip-reference" title="Manzini, M. C., Rajab, A., Maynard, T. M., Mochida, G. H., Tan, W.-H., Nasir, R., Hill, R. S., Gleason, D., Al Saffar, M., Partlow, J. N., Barry, B. J., Vernon, M., LaMantia, A.-S., Walsh, C. A. <strong>Developmental and degenerative features in a complicated spastic paraplegia.</strong> Ann. Neurol. 67: 516-525, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20437587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20437587</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20437587[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ana.21923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20437587">Manzini et al. (2010)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20437587+26003402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Butler, S., Helbig, K. L., Alcaraz, W., Seaver, L. H., Hsieh, D. T., Rohena, L. <strong>Three cases of Troyer syndrome in two families of Filipino descent.</strong> Am. J. Med. Genet. 170A: 1780-1785, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27112432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27112432</a>] [<a href="https://doi.org/10.1002/ajmg.a.37658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27112432">Butler et al. (2016)</a> identified a homozygous c.364_365delAT mutation in 2 sisters and an unrelated boy, all of Filipino descent, with SPG20. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27112432" 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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Biochem. Biophys. Res. Commun. 334: 1042-1048, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16036216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16036216</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16036216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?</strong>
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Arch. Neurol. 65: 520-524, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18413476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18413476</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18413476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.65.4.520" target="_blank">Full Text</a>]
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<a id="Butler2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Butler, S., Helbig, K. L., Alcaraz, W., Seaver, L. H., Hsieh, D. T., Rohena, L.
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<strong>Three cases of Troyer syndrome in two families of Filipino descent.</strong>
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Am. J. Med. Genet. 170A: 1780-1785, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27112432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27112432</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27112432" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.37658" target="_blank">Full Text</a>]
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<a id="Ciccarelli2003" class="mim-anchor"></a>
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Ciccarelli, F. D., Proukakis, C., Patel, H., Cross, H., Azam, S., Patton, M. A., Bork, P., Crosby, A. H.
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<strong>The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.</strong>
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Genomics 81: 437-441, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12676568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12676568</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12676568" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0888-7543(03)00011-9" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Manzini2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Manzini, M. C., Rajab, A., Maynard, T. M., Mochida, G. H., Tan, W.-H., Nasir, R., Hill, R. S., Gleason, D., Al Saffar, M., Partlow, J. N., Barry, B. J., Vernon, M., LaMantia, A.-S., Walsh, C. A.
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<strong>Developmental and degenerative features in a complicated spastic paraplegia.</strong>
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Ann. Neurol. 67: 516-525, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20437587/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20437587</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20437587[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=20437587" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.21923" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Patel2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Patel, H., Cross, H., Proukakis, C., Hershberger, R., Bork, P., Ciccarelli, F. D., Patton, M. A., McKusick, V. A., Crosby, A. H.
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<strong>SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.</strong>
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Nature Genet. 31: 347-348, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12134148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12134148</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12134148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng937" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Phillips2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Phillips, S. A., Barr, V. A., Haft, D. H., Taylor, S. I., Haft, C. R.
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<strong>Identification and characterization of SNX15, a novel sorting nexin involved in protein trafficking.</strong>
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J. Biol. Chem. 276: 5074-5084, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11085978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11085978</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11085978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M004671200" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Renvoise2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Renvoise, B., Parker, R. L., Yang, D., Bakowska, J. C., Hurley, J. H., Blackstone, C.
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<strong>SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis.</strong>
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Molec. Biol. Cell 21: 3293-3303, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20719964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20719964</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20719964[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=20719964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1091/mbc.E09-10-0879" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Tawamie2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tawamie, H., Wohlleber, E., Uebe, S., Schmal, C., Nothen, M. M., Jamra, R. A.
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<strong>Recurrent null mutation in SPG20 leads to Troyer syndrome.</strong>
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Molec. Cell. Probes 29: 315-318, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26003402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26003402</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26003402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.mcp.2015.05.006" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 03/01/2018
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/11/2016<br>Patricia A. Hartz - updated : 6/23/2015<br>Cassandra L. Kniffin - updated : 6/25/2010<br>Cassandra L. Kniffin - updated : 1/7/2009<br>Patricia A. Hartz - updated : 11/10/2006<br>Victor A. McKusick - updated : 5/2/2003<br>Victor A. McKusick - updated : 9/11/2002
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 7/24/2002
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/05/2018
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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ckniffin : 03/01/2018<br>carol : 06/26/2017<br>alopez : 05/16/2016<br>ckniffin : 5/11/2016<br>mgross : 6/23/2015<br>carol : 9/19/2013<br>wwang : 3/2/2011<br>wwang : 6/29/2010<br>ckniffin : 6/25/2010<br>wwang : 1/13/2009<br>ckniffin : 1/7/2009<br>wwang : 11/16/2006<br>terry : 11/10/2006<br>joanna : 10/31/2003<br>joanna : 10/31/2003<br>cwells : 5/5/2003<br>terry : 5/2/2003<br>carol : 9/18/2002<br>tkritzer : 9/11/2002<br>tkritzer : 9/11/2002<br>alopez : 8/1/2002<br>carol : 7/29/2002<br>mgross : 7/24/2002
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<span class="mim-font">
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<strong>*</strong> 607111
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<h3>
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<span class="mim-font">
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SPARTIN; SPART
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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SPG20<br />
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KIAA0610
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SPART</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 230264003;
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<strong>
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<em>
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Cytogenetic location: 13q13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 13:36,301,638-36,370,180 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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<th>
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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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Inheritance
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<th>
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Phenotype <br /> mapping key
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<span class="mim-font">
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13q13.3
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<td>
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<span class="mim-font">
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Troyer syndrome
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</td>
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<td>
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<span class="mim-font">
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275900
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<td>
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<div>
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<h4>
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>By positional cloning of a region implicated in Troyer syndrome (SPG20; 275900), Patel et al. (2002) identified a gene designated 'SPG20.' The SPG20 gene produces a 3,402-bp transcript encoding a 72.7-kD, 666-amino acid protein that the authors called spartin (spastic paraplegia autosomal recessive Troyer syndrome). Northern dot blot analysis showed that SPG20 is expressed ubiquitously, with highest expression in adipose tissue. Database analysis indicated that spartin shares sequence similarity with the N-terminal region of spastin (SPAST; 604277), as well as with other proteins involved in the morphology and membrane trafficking of endosomes. One mechanism for endosomal transportation involves microtubules. Spastin, which is commonly mutated in autosomal dominant hereditary spastic paraplegia (SPG4; 182601), associates with the microtubule cytoskeleton. Cells overexpressing spastin mutants show constitutive binding of abnormal spastin to microtubules, leading to redistribution of the microtubule array. The microtubule-binding capability of spastin appears to be located in its N-terminal region, which shares similarity with spartin. Thus, the data implicated spartin in endosomal trafficking, microtubule dynamics, or both, and suggested a functional link between 2 genes responsible for hereditary spastic paraplegia. </p><p>Bakowska et al. (2005) noted that in addition to the N-terminal microtubule-interacting and trafficking (MIT) domain, spartin contains a C-terminal plant-related region. By Western blot analysis of HeLa cell lysates, they showed that spartin had an apparent molecular mass of about 84 kD. In fractionated cells, spartin localized mainly to the cytosolic fraction, and a small amount was membrane-associated. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</h4>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Patel et al. (2002) determined that the SPG20 gene contains 9 exons spanning 43.3 kb. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Patel et al. (2002) mapped the SPG20 gene to chromosome 13q12.3. </p>
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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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<p>By multiple sequence alignment, Ciccarelli et al. (2003) identified a sequence domain of approximately 80 amino acids in spartin and in spastin. The domain partially resembled that called ESP (Phillips et al., 2001) which is found in proteins with a well established and consistent role in endosomal trafficking. Spastin is likely to be involved in microtubule interaction. Ciccarelli et al. (2003) proposed a more descriptive name, MIT (contained within microtubule-interacting and trafficking molecules), for the domain and predicted endosomal trafficking as the principal functionality of all molecules in which it is present. </p><p>By yeast 2-hybrid analysis, Bakowska et al. (2005) found that an N-terminal fragment of spartin interacted with EPS15 (600051), which was confirmed by protein pull-down and cellular redistribution assays. Mutation analysis showed that a 99-residue domain near the N terminus of spartin interacted with the C-terminal 65 amino acids of EPS15. </p><p>Using PCR analysis, Manzini et al. (2010) found SPG20 expression at modest levels in fetal and adult human brain, including the amygdala, cortex, and thalamus, with lower levels of expression in the hippocampus and cerebellum. Studies in mouse brain showed similar findings, except for higher expression in the hippocampus and expression in the spinal cord. In the mouse brain, Spg20 was found to be developmentally regulated, as expression was maximal at midgestation and embryonic day 10 and showed a precipitous decline thereafter. In situ studies in adult mouse brain showed Spg20 expression at low levels in neurons and glia of hippocampus and forebrain, and throughout the cerebellum, brainstem, and spinal cord. Shortly after neural tube closure, Spg20 was specifically expressed in the initial frontonasal mass/forebrain, craniofacial structures, aortic arch/heart primordium, and limb buds during morphogenesis, with lowest expression in the heart. These findings implicated a role for Spg20 in morphogenesis and differentiation at these sites. </p><p>Renvoise et al. (2010) observed that IST1 (616434) bound with high affinity to spartin and that the 2 proteins colocalized to the ends of Flemming bodies during cytokinesis. Deletion analysis revealed that the N-terminal MIT domain of spartin interacted with the MIM1 domain of IST1. Depletion of IST1 in HeLa cells reduced the localization of both spartin and IST1 at midbodies, but depletion of spartin had little effect on IST1 localization. Depletion of either IST1 or spartin substantially increased the number of multinucleated cells, consistent with a defect in cytokinesis. Live cell imaging showed a failure of abscission with knockdown of either spartin or IST1. </p>
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</span>
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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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<span class="mim-text-font">
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<p>In Amish patients with Troyer syndrome, Patel et al. (2002) identified a homozygous 1-bp deletion (607111.0001) in the SPG20 gene. The findings were consistent with a founder effect. </p><p>In affected members of a large Omani kindred with SPG20, Manzini et al. (2010) identified a homozygous 2-bp deletion (607111.0002) in the SPG20 gene. </p><p>In 3 patients of Filipino descent, including 2 sisters, Butler et al. (2016) identified a homozygous frameshift mutation in the SPG20 gene (607111.0002). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Functional studies of the variant and studies of patient cells were not performed, but the mutation was the same as that identified in Omani and Turkish SPG20 kindreds (Manzini et al., 2010 and Tawamie et al., 2015), confirming the pathogenicity. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>2 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE</strong>
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</span>
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</h4>
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SPART, 1-BP DEL, 1110A
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<br />
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SNP: rs1060499524,
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gnomAD: rs1060499524,
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ClinVar: RCV000003621, RCV001008821, RCV003904801
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</span>
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<div>
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<span class="mim-text-font">
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<p>In Amish patients with Troyer syndrome (275900), Patel et al. (2002) identified a homozygous 1-bp deletion (1110delA) in exon 4 of the SPG20, predicted to result in a truncated protein. Sequencing of RNA from lymphocytes from affected individuals, carrier parents, and normal controls showed the mutation in the RNA transcripts in individuals with Troyer syndrome. The mutation was not found in 760 normal control chromosomes of mixed Caucasian, Asian, and African descent or in 100 chromosomes from individuals from the same and neighboring Amish communities who were not close relatives of the individuals with Troyer syndrome. </p><p>Bakowska et al. (2008) identified the 1110delA mutation in 2 Amish sibs with Troyer syndrome. Studies on patient fibroblasts and lymphoblasts showed spartin mRNA transcripts, but no translated protein, consistent with complete loss of function. </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>.0002 SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SPART, 2-BP DEL, 364AT
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<br />
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SNP: rs775736341,
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gnomAD: rs775736341,
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ClinVar: RCV000003622, RCV000624566, RCV001090324, RCV002273920
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected individuals from a large Omani kindred with SPG20 (275900), Manzini et al. (2010) identified a homozygous 2-bp deletion (c.364_365delAT) in the first coding exon of the SPG20 gene, resulting in a frameshift and premature termination. Unaffected family members were heterozygous for the mutation, which was not found in 96 controls. The phenotype included lower limb spasticity and hyperreflexia, short stature, dysarthria, and delayed motor and cognitive development. Studies in patient lymphoblastoid cells confirmed lack of the protein consistent with a null mutation. </p><p>Tawamie et al. (2015) identified a homozygous c.364_365delAT mutation (c.364delAT, NM_001142294) (Met122ValfsTer2) in exon 2 of the SPG20 gene in 2 sibs, born of consanguineous Turkish parents, with SPG20. The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The variant was filtered against the 1000 Genomes Project and Exome Variant Server database and over 600 in-house exomes. The variant was present as a heterozygous variant in 6 individuals from the ExAC database. Functional studies and studies of patient cells were not performed. Haplotype analysis indicated that the mutation occurred independently from that in the Omani patients reported by Manzini et al. (2010). </p><p>Butler et al. (2016) identified a homozygous c.364_365delAT mutation in 2 sisters and an unrelated boy, all of Filipino descent, with SPG20. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. Functional studies of the variant and studies of patient cells were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Bakowska, J. C., Jenkins, R., Pendleton, J., Blackstone, C.
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<strong>The Troyer syndrome (SPG20) protein spartin interacts with Eps15.</strong>
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Biochem. Biophys. Res. Commun. 334: 1042-1048, 2005.
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[PubMed: 16036216]
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[Full Text: https://doi.org/10.1016/j.bbrc.2005.06.201]
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</li>
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<li>
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<p class="mim-text-font">
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Bakowska, J. C., Wang, H., Xin, B., Sumner, C. J., Blackstone, C.
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<strong>Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?</strong>
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Arch. Neurol. 65: 520-524, 2008.
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[PubMed: 18413476]
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[Full Text: https://doi.org/10.1001/archneur.65.4.520]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Butler, S., Helbig, K. L., Alcaraz, W., Seaver, L. H., Hsieh, D. T., Rohena, L.
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<strong>Three cases of Troyer syndrome in two families of Filipino descent.</strong>
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Am. J. Med. Genet. 170A: 1780-1785, 2016.
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[PubMed: 27112432]
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[Full Text: https://doi.org/10.1002/ajmg.a.37658]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ciccarelli, F. D., Proukakis, C., Patel, H., Cross, H., Azam, S., Patton, M. A., Bork, P., Crosby, A. H.
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<strong>The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.</strong>
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Genomics 81: 437-441, 2003.
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[PubMed: 12676568]
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[Full Text: https://doi.org/10.1016/s0888-7543(03)00011-9]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Manzini, M. C., Rajab, A., Maynard, T. M., Mochida, G. H., Tan, W.-H., Nasir, R., Hill, R. S., Gleason, D., Al Saffar, M., Partlow, J. N., Barry, B. J., Vernon, M., LaMantia, A.-S., Walsh, C. A.
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<strong>Developmental and degenerative features in a complicated spastic paraplegia.</strong>
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Ann. Neurol. 67: 516-525, 2010.
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[PubMed: 20437587]
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[Full Text: https://doi.org/10.1002/ana.21923]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Patel, H., Cross, H., Proukakis, C., Hershberger, R., Bork, P., Ciccarelli, F. D., Patton, M. A., McKusick, V. A., Crosby, A. H.
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<strong>SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.</strong>
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Nature Genet. 31: 347-348, 2002.
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[PubMed: 12134148]
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[Full Text: https://doi.org/10.1038/ng937]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Phillips, S. A., Barr, V. A., Haft, D. H., Taylor, S. I., Haft, C. R.
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<strong>Identification and characterization of SNX15, a novel sorting nexin involved in protein trafficking.</strong>
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J. Biol. Chem. 276: 5074-5084, 2001.
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[PubMed: 11085978]
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[Full Text: https://doi.org/10.1074/jbc.M004671200]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Renvoise, B., Parker, R. L., Yang, D., Bakowska, J. C., Hurley, J. H., Blackstone, C.
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<strong>SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis.</strong>
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Molec. Biol. Cell 21: 3293-3303, 2010.
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[PubMed: 20719964]
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[Full Text: https://doi.org/10.1091/mbc.E09-10-0879]
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<li>
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<p class="mim-text-font">
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Tawamie, H., Wohlleber, E., Uebe, S., Schmal, C., Nothen, M. M., Jamra, R. A.
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<strong>Recurrent null mutation in SPG20 leads to Troyer syndrome.</strong>
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Molec. Cell. Probes 29: 315-318, 2015.
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[PubMed: 26003402]
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[Full Text: https://doi.org/10.1016/j.mcp.2015.05.006]
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 03/01/2018<br>Cassandra L. Kniffin - updated : 5/11/2016<br>Patricia A. Hartz - updated : 6/23/2015<br>Cassandra L. Kniffin - updated : 6/25/2010<br>Cassandra L. Kniffin - updated : 1/7/2009<br>Patricia A. Hartz - updated : 11/10/2006<br>Victor A. McKusick - updated : 5/2/2003<br>Victor A. McKusick - updated : 9/11/2002
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 7/24/2002
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carol : 03/05/2018<br>ckniffin : 03/01/2018<br>carol : 06/26/2017<br>alopez : 05/16/2016<br>ckniffin : 5/11/2016<br>mgross : 6/23/2015<br>carol : 9/19/2013<br>wwang : 3/2/2011<br>wwang : 6/29/2010<br>ckniffin : 6/25/2010<br>wwang : 1/13/2009<br>ckniffin : 1/7/2009<br>wwang : 11/16/2006<br>terry : 11/10/2006<br>joanna : 10/31/2003<br>joanna : 10/31/2003<br>cwells : 5/5/2003<br>terry : 5/2/2003<br>carol : 9/18/2002<br>tkritzer : 9/11/2002<br>tkritzer : 9/11/2002<br>alopez : 8/1/2002<br>carol : 7/29/2002<br>mgross : 7/24/2002
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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Thank you in advance for your generous support, <br />
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