3201 lines
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Entry
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- *612012 - ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 26; ZFYVE26
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- OMIM
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<p>
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<span class="h4">*612012</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/612012">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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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 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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</a>
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</h4>
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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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<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=ENSG00000072121;t=ENST00000347230" 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=23503" 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=612012" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<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=ENSG00000072121;t=ENST00000347230" 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_015346,XM_011536609,XM_047431173,XM_047431174,XM_047431175" 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_015346" 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=612012" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=15734&isoform_id=15734_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/ZFYVE26" 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/2224583,28175105,31873896,31874124,33989002,38202205,50950036,51476282,51476456,119601358,119601359,119601360,119601361,119601362,194385760,767980169,929654784,2217296912,2217296914,2217296916,2462539546,2462539548,2462539550,2462539552,2528974322" 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/Q68DK2" 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 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=23503" 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=ENSG00000072121;t=ENST00000347230" 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=ZFYVE26" 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=ZFYVE26" 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+23503" 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/ZFYVE26" 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:23503" 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/23503" 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=chr14&hgg_gene=ENST00000347230.9&hgg_start=67728892&hgg_end=67816590&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:20761" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/zfyve26" 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=612012[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=612012[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/ZFYVE26/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/ENSG00000072121" 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=ZFYVE26" 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=ZFYVE26" 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=ZFYVE26" 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=ZFYVE26&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/PA134904455" 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:20761" 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/FBgn0037897.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:1924767" 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/ZFYVE26#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:1924767" 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/23503/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=23503" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-3286" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=ZFYVE26&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> 764686003<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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612012
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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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ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 26; ZFYVE26
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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KIAA0321<br />
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SPASTIZIN<br />
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SPG15 GENE; SPG15
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ZFYVE26" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ZFYVE26</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/14/333?start=-3&limit=10&highlight=333">14q24.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr14:67728892-67816590&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'})">14:67,728,892-67,816,590</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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<a href="/geneMap/14/333?start=-3&limit=10&highlight=333">
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14q24.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Spastic paraplegia 15, autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/270700"> 270700 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/612012" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/612012" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="cloning" class="mim-anchor"></a>
|
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<p>By sequencing clones obtained from a size-fractionated human brain cDNA library, <a href="#7" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Nakajima, D., Ohira, M., Seki, N., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 4: 141-150, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9205841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9205841</a>] [<a href="https://doi.org/10.1093/dnares/4.2.141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9205841">Nagase et al. (1997)</a> cloned ZFYVE26, which they designated KIAA0321. The deduced 1,542-amino acid protein shares weak homology with mouse Hgs (<a href="/entry/604375">604375</a>), a protein involved in cell signaling. RT-PCR detected ZFYVE26 expression in all tissues examined. Highest expression was in ovary, followed by placenta, lung, and kidney. In vitro-translated ZFYVE26 had an apparent molecular mass of more than 100 kD by SDS-PAGE. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9205841" 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="#5" class="mim-tip-reference" title="Hanein, S., Martin, E., Boukhris, A., Byrne, P., Goizet, C., Hamri, A., Benomar, A., Lossos, A., Denora, P., Fernandez, J., Elleuch, N., Forlani, S., Durr, A., Feki, I., Hutchinson, M., Santorelli, F. M., Mhiri, C., Brice, A., Stevanin, G. <strong>Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.</strong> Am. J. Hum. Genet. 82: 992-1002, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18394578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18394578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18394578[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18394578">Hanein et al. (2008)</a> characterized full-length ZFYVE26. The 2,539-residue protein has a 9.7-kb mRNA transcript and is expressed in various human tissues, particularly adrenal gland, bone marrow, adult brain, fetal brain, lung, placenta, prostate, skeletal muscle, testis, thymus, and retina. In situ hybridization showed wider and stronger Zfyve26 expression in embryonic rat brain compared to adult rat brain, particularly in the spinal cord and cortical, cerebellar, thalamic, and hippocampal neuroepithelia. In COS-7 cells, ZFYVE26 colocalized partially with markers of endoplasmic reticulum and endosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18394578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The ZFYVE26 gene contains 42 exons (<a href="#5" class="mim-tip-reference" title="Hanein, S., Martin, E., Boukhris, A., Byrne, P., Goizet, C., Hamri, A., Benomar, A., Lossos, A., Denora, P., Fernandez, J., Elleuch, N., Forlani, S., Durr, A., Feki, I., Hutchinson, M., Santorelli, F. M., Mhiri, C., Brice, A., Stevanin, G. <strong>Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.</strong> Am. J. Hum. Genet. 82: 992-1002, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18394578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18394578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18394578[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18394578">Hanein et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18394578" 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 radiation hybrid analysis, <a href="#7" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Nakajima, D., Ohira, M., Seki, N., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 4: 141-150, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9205841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9205841</a>] [<a href="https://doi.org/10.1093/dnares/4.2.141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9205841">Nagase et al. (1997)</a> mapped the ZFYVE26 gene to chromosome 14. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9205841" 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>The ZFYVE26 gene maps to chromosome 14q24.1 (<a href="#5" class="mim-tip-reference" title="Hanein, S., Martin, E., Boukhris, A., Byrne, P., Goizet, C., Hamri, A., Benomar, A., Lossos, A., Denora, P., Fernandez, J., Elleuch, N., Forlani, S., Durr, A., Feki, I., Hutchinson, M., Santorelli, F. M., Mhiri, C., Brice, A., Stevanin, G. <strong>Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.</strong> Am. J. Hum. Genet. 82: 992-1002, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18394578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18394578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18394578[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18394578">Hanein et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18394578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By immunoprecipitation analysis of HeLa cells, <a href="#8" class="mim-tip-reference" title="Slabicki, M., Theis, M., Krastev, D. B., Samsonov, S., Mundwiller, E., Junqueira, M., Paszkowski-Rogacz, M., Teyra, J., Heninger, A.-K., Poser, I., Prieur, F., Truchetto, J., and 9 others. <strong>A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.</strong> PLoS Biol. 8: e1000408, 2010. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20613862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20613862</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20613862[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/10.1371/journal.pbio.1000408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20613862">Slabicki et al. (2010)</a> showed that KIAA0415 (<a href="/entry/613653">613653</a>) exists in a core protein complex containing SPG11 (<a href="/entry/610844">610844</a>), SPG15 (ZFYVE26), C20ORF29 (AP5S1; <a href="/entry/614824">614824</a>), and DKFZp761E198 (<a href="/entry/614367">614367</a>). Knockdown of KIAA0415, C20ORF29, or SPG15 in HeLa cells reduced homologous recombination in a test substrate, whereas knockdown of SPG11 or DKFZp761E198 had no effect. Knockdown of KIAA0415 also reduced homologous recombination in U2OS human osteosarcoma cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20613862" 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 affected individuals from 8 families with autosomal recessive spastic paraplegia-15 (SPG15; <a href="/entry/270700">270700</a>), <a href="#5" class="mim-tip-reference" title="Hanein, S., Martin, E., Boukhris, A., Byrne, P., Goizet, C., Hamri, A., Benomar, A., Lossos, A., Denora, P., Fernandez, J., Elleuch, N., Forlani, S., Durr, A., Feki, I., Hutchinson, M., Santorelli, F. M., Mhiri, C., Brice, A., Stevanin, G. <strong>Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.</strong> Am. J. Hum. Genet. 82: 992-1002, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18394578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18394578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18394578[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18394578">Hanein et al. (2008)</a> identified 6 different homozygous mutations in the ZFYVE26 gene (see, e.g., <a href="#0001">612012.0001</a>-<a href="#0004">612012.0004</a>). The families had previously been reported by <a href="#6" class="mim-tip-reference" title="Hughes, C. A., Byrne, P. C., Webb, S., McMonagle, P., Patterson, V., Hutchinson, M., Parfrey, N. A. <strong>SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q.</strong> Neurology 56: 1230-1233, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11342696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11342696</a>] [<a href="https://doi.org/10.1212/wnl.56.9.1230" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11342696">Hughes et al. (2001)</a>, <a href="#3" class="mim-tip-reference" title="Elleuch, N., Bouslam, N., Hanein, S., Lossos, A., Hamri, A., Klebe, S., Meiner, V., Birouk, N., Lerer, I., Grid, D., Bacq, D., Tazir, M., Zelenika, D., Argov, Z., Durr, A., Yahyaoui, M., Benomar, A., Brice, A., Stevanin, G. <strong>Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.</strong> Neurogenetics 8: 307-315, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17661097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17661097</a>] [<a href="https://doi.org/10.1007/s10048-007-0097-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17661097">Elleuch et al. (2007)</a>, <a href="#2" class="mim-tip-reference" title="Casali, C., Valente, E. M., Bertini, E., Montagna, G., Criscuolo, C., De Michele, G., Villanova, M., Damiano, M., Pierallini, A., Brancati, F., Scarano, V., Tessa, A., and 11 others. <strong>Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.</strong> Neurology 62: 262-268, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14745065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14745065</a>] [<a href="https://doi.org/10.1212/wnl.62.2.262" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14745065">Casali et al. (2004)</a>, and <a href="#1" class="mim-tip-reference" title="Boukhris, A., Feki, I., Denis, E., Miladi, M. I., Brice, A., Mhiri, C., Stevanin, G. <strong>Spastic paraplegia 15: linkage and clinical description of three Tunisian families.</strong> Mov. Disord. 23: 429-433, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18098276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18098276</a>] [<a href="https://doi.org/10.1002/mds.21848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18098276">Boukhris et al. (2008)</a>. All the mutations resulted in truncated proteins. The phenotype was somewhat variable, but generally characterized by lower limb spasticity, cognitive deterioration, axonal neuropathy, and white matter abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18394578+14745065+11342696+17661097+18098276" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Goizet, C., Boukhris, A., Maltete, D., Guyant-Marechal, L., Truchetto, J., Mundwiller, E., Hanein, S., Jonveaux, P., Roelens, F., Loureiro, J., Godet, E., Forlani, S., and 12 others. <strong>SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.</strong> Neurology 73: 1111-1119, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19805727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19805727</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181bacf59" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19805727">Goizet et al. (2009)</a> identified 12 different biallelic truncating mutations in the ZFYVE26 gene (see, e.g., <a href="#0005">612012.0005</a>-<a href="#0006">612012.0006</a>) in affected members of 8 families with SPG15. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19805727" 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> rs118204049 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204049;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/rs118204049?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=rs118204049" 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=rs118204049" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000785 OR RCV001035676 OR RCV001555238" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000785, RCV001035676, RCV001555238" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000785...</a>
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<p>In affected members of 2 presumably unrelated families with spastic paraplegia (SPG15; <a href="/entry/270700">270700</a>) from Ireland (<a href="#6" class="mim-tip-reference" title="Hughes, C. A., Byrne, P. C., Webb, S., McMonagle, P., Patterson, V., Hutchinson, M., Parfrey, N. A. <strong>SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q.</strong> Neurology 56: 1230-1233, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11342696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11342696</a>] [<a href="https://doi.org/10.1212/wnl.56.9.1230" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11342696">Hughes et al., 2001</a>) and Morocco (<a href="#3" class="mim-tip-reference" title="Elleuch, N., Bouslam, N., Hanein, S., Lossos, A., Hamri, A., Klebe, S., Meiner, V., Birouk, N., Lerer, I., Grid, D., Bacq, D., Tazir, M., Zelenika, D., Argov, Z., Durr, A., Yahyaoui, M., Benomar, A., Brice, A., Stevanin, G. <strong>Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.</strong> Neurogenetics 8: 307-315, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17661097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17661097</a>] [<a href="https://doi.org/10.1007/s10048-007-0097-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17661097">Elleuch et al., 2007</a>), respectively, <a href="#5" class="mim-tip-reference" title="Hanein, S., Martin, E., Boukhris, A., Byrne, P., Goizet, C., Hamri, A., Benomar, A., Lossos, A., Denora, P., Fernandez, J., Elleuch, N., Forlani, S., Durr, A., Feki, I., Hutchinson, M., Santorelli, F. M., Mhiri, C., Brice, A., Stevanin, G. <strong>Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.</strong> Am. J. Hum. Genet. 82: 992-1002, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18394578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18394578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18394578[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18394578">Hanein et al. (2008)</a> identified a homozygous 4312C-T transition in exon 21 of the ZFYVE26 gene, resulting in an arg1438-to-ter (R1438X) substitution. Both families were consanguineous and not known to be related. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17661097+18394578+11342696" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1594898627 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1594898627;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1594898627" 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=rs1594898627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a consanguineous Algerian family with spastic paraplegia (SPG15; <a href="/entry/270700">270700</a>) previously reported by <a href="#3" class="mim-tip-reference" title="Elleuch, N., Bouslam, N., Hanein, S., Lossos, A., Hamri, A., Klebe, S., Meiner, V., Birouk, N., Lerer, I., Grid, D., Bacq, D., Tazir, M., Zelenika, D., Argov, Z., Durr, A., Yahyaoui, M., Benomar, A., Brice, A., Stevanin, G. <strong>Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.</strong> Neurogenetics 8: 307-315, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17661097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17661097</a>] [<a href="https://doi.org/10.1007/s10048-007-0097-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17661097">Elleuch et al. (2007)</a>, <a href="#5" class="mim-tip-reference" title="Hanein, S., Martin, E., Boukhris, A., Byrne, P., Goizet, C., Hamri, A., Benomar, A., Lossos, A., Denora, P., Fernandez, J., Elleuch, N., Forlani, S., Durr, A., Feki, I., Hutchinson, M., Santorelli, F. M., Mhiri, C., Brice, A., Stevanin, G. <strong>Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.</strong> Am. J. Hum. Genet. 82: 992-1002, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18394578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18394578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18394578[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18394578">Hanein et al. (2008)</a> identified a homozygous G-to-A transition (5485-1G-A) in intron 28 of the ZFYVE26 gene, resulting in a splice site mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17661097+18394578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2140185342 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2140185342;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2140185342" 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=rs2140185342" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a consanguineous Israeli Arab family with spastic paraplegia (SPG15; <a href="/entry/270700">270700</a>) previously reported by <a href="#3" class="mim-tip-reference" title="Elleuch, N., Bouslam, N., Hanein, S., Lossos, A., Hamri, A., Klebe, S., Meiner, V., Birouk, N., Lerer, I., Grid, D., Bacq, D., Tazir, M., Zelenika, D., Argov, Z., Durr, A., Yahyaoui, M., Benomar, A., Brice, A., Stevanin, G. <strong>Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.</strong> Neurogenetics 8: 307-315, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17661097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17661097</a>] [<a href="https://doi.org/10.1007/s10048-007-0097-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17661097">Elleuch et al. (2007)</a>, <a href="#5" class="mim-tip-reference" title="Hanein, S., Martin, E., Boukhris, A., Byrne, P., Goizet, C., Hamri, A., Benomar, A., Lossos, A., Denora, P., Fernandez, J., Elleuch, N., Forlani, S., Durr, A., Feki, I., Hutchinson, M., Santorelli, F. M., Mhiri, C., Brice, A., Stevanin, G. <strong>Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.</strong> Am. J. Hum. Genet. 82: 992-1002, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18394578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18394578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18394578[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18394578">Hanein et al. (2008)</a> identified a homozygous 70-bp deletion (6702del) in exon 36 of the ZFYVE26 gene, resulting in a frameshift and premature termination. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17661097+18394578" 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">rs118204050 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204050;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204050" 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=rs118204050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of 2 consanguineous Tunisian families with spastic paraplegia (SPG15; <a href="/entry/270700">270700</a>) reported by <a href="#1" class="mim-tip-reference" title="Boukhris, A., Feki, I., Denis, E., Miladi, M. I., Brice, A., Mhiri, C., Stevanin, G. <strong>Spastic paraplegia 15: linkage and clinical description of three Tunisian families.</strong> Mov. Disord. 23: 429-433, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18098276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18098276</a>] [<a href="https://doi.org/10.1002/mds.21848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18098276">Boukhris et al. (2008)</a>, <a href="#5" class="mim-tip-reference" title="Hanein, S., Martin, E., Boukhris, A., Byrne, P., Goizet, C., Hamri, A., Benomar, A., Lossos, A., Denora, P., Fernandez, J., Elleuch, N., Forlani, S., Durr, A., Feki, I., Hutchinson, M., Santorelli, F. M., Mhiri, C., Brice, A., Stevanin, G. <strong>Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.</strong> Am. J. Hum. Genet. 82: 992-1002, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18394578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18394578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18394578[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18394578">Hanein et al. (2008)</a> identified a homozygous 1477C-T transition in exon 10 of the ZFYVE26 gene, resulting in a gln493-to-ter (Q493X) substitution. Haplotype analysis indicated a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18394578+18098276" 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> rs753426920 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs753426920;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/rs753426920?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=rs753426920" 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=rs753426920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000023920 OR RCV002513211" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023920, RCV002513211" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023920...</a>
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<p>In affected members of a consanguineous Syrian family with spastic paraplegia (SPG15; <a href="/entry/270700">270700</a>), <a href="#4" class="mim-tip-reference" title="Goizet, C., Boukhris, A., Maltete, D., Guyant-Marechal, L., Truchetto, J., Mundwiller, E., Hanein, S., Jonveaux, P., Roelens, F., Loureiro, J., Godet, E., Forlani, S., and 12 others. <strong>SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.</strong> Neurology 73: 1111-1119, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19805727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19805727</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181bacf59" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19805727">Goizet et al. (2009)</a> identified a homozygous 1-bp deletion (5036delT) in exon 26 of the ZFYVE26 gene, resulting in a frameshift and premature termination. The proband presented at age 4 years with mental retardation, and the disorder progressed to severe lower limb spasticity and dysarthria. Brain MRI showed thin corpus callosum and white matter hyperintensities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19805727" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE</strong>
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ZFYVE26, GLN1808TER
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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> rs387907057 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907057;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/rs387907057?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=rs387907057" 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=rs387907057" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000023921 OR RCV001852032" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023921, RCV001852032" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023921...</a>
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<p>In affected members of a consanguineous Turkish family with spastic paraplegia (SPG15; <a href="/entry/270700">270700</a>), <a href="#4" class="mim-tip-reference" title="Goizet, C., Boukhris, A., Maltete, D., Guyant-Marechal, L., Truchetto, J., Mundwiller, E., Hanein, S., Jonveaux, P., Roelens, F., Loureiro, J., Godet, E., Forlani, S., and 12 others. <strong>SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.</strong> Neurology 73: 1111-1119, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19805727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19805727</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181bacf59" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19805727">Goizet et al. (2009)</a> identified a homozygous 5422C-T transition in exon 28 of the ZFYVE26 gene, resulting in a gln1808-to-ter (Q1808X) substitution. The proband presented at age 14 years with lower limb spasticity. Other features included mental retardation, nystagmus, and white matter hyperintensities on brain MRI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19805727" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Boukhris2008" class="mim-anchor"></a>
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Boukhris, A., Feki, I., Denis, E., Miladi, M. I., Brice, A., Mhiri, C., Stevanin, G.
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<strong>Spastic paraplegia 15: linkage and clinical description of three Tunisian families.</strong>
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Mov. Disord. 23: 429-433, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18098276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18098276</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18098276" 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/mds.21848" target="_blank">Full Text</a>]
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<a id="Casali2004" class="mim-anchor"></a>
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Casali, C., Valente, E. M., Bertini, E., Montagna, G., Criscuolo, C., De Michele, G., Villanova, M., Damiano, M., Pierallini, A., Brancati, F., Scarano, V., Tessa, A., and 11 others.
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<strong>Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.</strong>
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Neurology 62: 262-268, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14745065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14745065</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14745065" 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/10.1212/wnl.62.2.262" target="_blank">Full Text</a>]
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<a id="Elleuch2007" class="mim-anchor"></a>
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Elleuch, N., Bouslam, N., Hanein, S., Lossos, A., Hamri, A., Klebe, S., Meiner, V., Birouk, N., Lerer, I., Grid, D., Bacq, D., Tazir, M., Zelenika, D., Argov, Z., Durr, A., Yahyaoui, M., Benomar, A., Brice, A., Stevanin, G.
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<strong>Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.</strong>
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Neurogenetics 8: 307-315, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17661097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17661097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17661097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10048-007-0097-x" target="_blank">Full Text</a>]
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<a id="Goizet2009" class="mim-anchor"></a>
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Goizet, C., Boukhris, A., Maltete, D., Guyant-Marechal, L., Truchetto, J., Mundwiller, E., Hanein, S., Jonveaux, P., Roelens, F., Loureiro, J., Godet, E., Forlani, S., and 12 others.
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<strong>SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.</strong>
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Neurology 73: 1111-1119, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19805727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19805727</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19805727" 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/10.1212/WNL.0b013e3181bacf59" target="_blank">Full Text</a>]
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<a id="Hanein2008" class="mim-anchor"></a>
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Hanein, S., Martin, E., Boukhris, A., Byrne, P., Goizet, C., Hamri, A., Benomar, A., Lossos, A., Denora, P., Fernandez, J., Elleuch, N., Forlani, S., Durr, A., Feki, I., Hutchinson, M., Santorelli, F. M., Mhiri, C., Brice, A., Stevanin, G.
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<strong>Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.</strong>
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Am. J. Hum. Genet. 82: 992-1002, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18394578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18394578</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18394578[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=18394578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2008.03.004" target="_blank">Full Text</a>]
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<a id="Hughes2001" class="mim-anchor"></a>
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Hughes, C. A., Byrne, P. C., Webb, S., McMonagle, P., Patterson, V., Hutchinson, M., Parfrey, N. A.
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<strong>SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q.</strong>
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Neurology 56: 1230-1233, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11342696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11342696</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11342696" 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/10.1212/wnl.56.9.1230" target="_blank">Full Text</a>]
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<a id="Nagase1997" class="mim-anchor"></a>
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Nagase, T., Ishikawa, K., Nakajima, D., Ohira, M., Seki, N., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
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DNA Res. 4: 141-150, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9205841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9205841</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9205841" 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/10.1093/dnares/4.2.141" target="_blank">Full Text</a>]
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<a id="Slabicki2010" class="mim-anchor"></a>
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Slabicki, M., Theis, M., Krastev, D. B., Samsonov, S., Mundwiller, E., Junqueira, M., Paszkowski-Rogacz, M., Teyra, J., Heninger, A.-K., Poser, I., Prieur, F., Truchetto, J., and 9 others.
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<strong>A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.</strong>
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PLoS Biol. 8: e1000408, 2010. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20613862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20613862</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20613862[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=20613862" 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/10.1371/journal.pbio.1000408" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 3/23/2011
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Patricia A. Hartz - updated : 11/22/2010<br>Cassandra L. Kniffin - updated : 4/30/2008
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 4/25/2008
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/15/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 09/17/2012<br>mgross : 11/29/2011<br>terry : 9/29/2011<br>wwang : 4/7/2011<br>ckniffin : 3/23/2011<br>terry : 11/30/2010<br>mgross : 11/22/2010<br>wwang : 5/1/2008<br>ckniffin : 4/30/2008<br>mgross : 4/25/2008
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</span>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 612012
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 26; ZFYVE26
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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KIAA0321<br />
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SPASTIZIN<br />
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SPG15 GENE; SPG15
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ZFYVE26</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 764686003;
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</span>
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</p>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 14q24.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 14:67,728,892-67,816,590 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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14q24.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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Spastic paraplegia 15, autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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270700
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By sequencing clones obtained from a size-fractionated human brain cDNA library, Nagase et al. (1997) cloned ZFYVE26, which they designated KIAA0321. The deduced 1,542-amino acid protein shares weak homology with mouse Hgs (604375), a protein involved in cell signaling. RT-PCR detected ZFYVE26 expression in all tissues examined. Highest expression was in ovary, followed by placenta, lung, and kidney. In vitro-translated ZFYVE26 had an apparent molecular mass of more than 100 kD by SDS-PAGE. </p><p>Hanein et al. (2008) characterized full-length ZFYVE26. The 2,539-residue protein has a 9.7-kb mRNA transcript and is expressed in various human tissues, particularly adrenal gland, bone marrow, adult brain, fetal brain, lung, placenta, prostate, skeletal muscle, testis, thymus, and retina. In situ hybridization showed wider and stronger Zfyve26 expression in embryonic rat brain compared to adult rat brain, particularly in the spinal cord and cortical, cerebellar, thalamic, and hippocampal neuroepithelia. In COS-7 cells, ZFYVE26 colocalized partially with markers of endoplasmic reticulum and endosomes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The ZFYVE26 gene contains 42 exons (Hanein et al., 2008). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>By radiation hybrid analysis, Nagase et al. (1997) mapped the ZFYVE26 gene to chromosome 14. </p><p>The ZFYVE26 gene maps to chromosome 14q24.1 (Hanein et al., 2008). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By immunoprecipitation analysis of HeLa cells, Slabicki et al. (2010) showed that KIAA0415 (613653) exists in a core protein complex containing SPG11 (610844), SPG15 (ZFYVE26), C20ORF29 (AP5S1; 614824), and DKFZp761E198 (614367). Knockdown of KIAA0415, C20ORF29, or SPG15 in HeLa cells reduced homologous recombination in a test substrate, whereas knockdown of SPG11 or DKFZp761E198 had no effect. Knockdown of KIAA0415 also reduced homologous recombination in U2OS human osteosarcoma cells. </p>
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|
</span>
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<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
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|
</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>In affected individuals from 8 families with autosomal recessive spastic paraplegia-15 (SPG15; 270700), Hanein et al. (2008) identified 6 different homozygous mutations in the ZFYVE26 gene (see, e.g., 612012.0001-612012.0004). The families had previously been reported by Hughes et al. (2001), Elleuch et al. (2007), Casali et al. (2004), and Boukhris et al. (2008). All the mutations resulted in truncated proteins. The phenotype was somewhat variable, but generally characterized by lower limb spasticity, cognitive deterioration, axonal neuropathy, and white matter abnormalities. </p><p>Goizet et al. (2009) identified 12 different biallelic truncating mutations in the ZFYVE26 gene (see, e.g., 612012.0005-612012.0006) in affected members of 8 families with SPG15. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>6 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ZFYVE26, ARG1438TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs118204049,
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|
|
|
|
|
gnomAD: rs118204049,
|
|
|
|
|
|
ClinVar: RCV000000785, RCV001035676, RCV001555238
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 2 presumably unrelated families with spastic paraplegia (SPG15; 270700) from Ireland (Hughes et al., 2001) and Morocco (Elleuch et al., 2007), respectively, Hanein et al. (2008) identified a homozygous 4312C-T transition in exon 21 of the ZFYVE26 gene, resulting in an arg1438-to-ter (R1438X) substitution. Both families were consanguineous and not known to be related. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ZFYVE26, IVS28AS, G-A, -1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1594898627,
|
|
|
|
|
|
|
|
ClinVar: RCV000000786
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous Algerian family with spastic paraplegia (SPG15; 270700) previously reported by Elleuch et al. (2007), Hanein et al. (2008) identified a homozygous G-to-A transition (5485-1G-A) in intron 28 of the ZFYVE26 gene, resulting in a splice site mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
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|
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|
<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
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|
<div>
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ZFYVE26, 70-BP DEL, NT6702
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2140185342,
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|
|
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|
|
ClinVar: RCV000000787
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous Israeli Arab family with spastic paraplegia (SPG15; 270700) previously reported by Elleuch et al. (2007), Hanein et al. (2008) identified a homozygous 70-bp deletion (6702del) in exon 36 of the ZFYVE26 gene, resulting in a frameshift and premature termination. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
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<div>
|
|
<br />
|
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</div>
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|
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</div>
|
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|
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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ZFYVE26, GLN493TER
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<br />
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|
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SNP: rs118204050,
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ClinVar: RCV000000788
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</span>
|
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</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 2 consanguineous Tunisian families with spastic paraplegia (SPG15; 270700) reported by Boukhris et al. (2008), Hanein et al. (2008) identified a homozygous 1477C-T transition in exon 10 of the ZFYVE26 gene, resulting in a gln493-to-ter (Q493X) substitution. Haplotype analysis indicated a founder effect. </p>
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|
</span>
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0005 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
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<span class="mim-text-font">
|
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|
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ZFYVE26, 1-BP DEL, 5036T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs753426920,
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|
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|
|
|
gnomAD: rs753426920,
|
|
|
|
|
|
ClinVar: RCV000023920, RCV002513211
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous Syrian family with spastic paraplegia (SPG15; 270700), Goizet et al. (2009) identified a homozygous 1-bp deletion (5036delT) in exon 26 of the ZFYVE26 gene, resulting in a frameshift and premature termination. The proband presented at age 4 years with mental retardation, and the disorder progressed to severe lower limb spasticity and dysarthria. Brain MRI showed thin corpus callosum and white matter hyperintensities. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
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<span class="mim-text-font">
|
|
|
|
ZFYVE26, GLN1808TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387907057,
|
|
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gnomAD: rs387907057,
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ClinVar: RCV000023921, RCV001852032
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</span>
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<span class="mim-text-font">
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<p>In affected members of a consanguineous Turkish family with spastic paraplegia (SPG15; 270700), Goizet et al. (2009) identified a homozygous 5422C-T transition in exon 28 of the ZFYVE26 gene, resulting in a gln1808-to-ter (Q1808X) substitution. The proband presented at age 14 years with lower limb spasticity. Other features included mental retardation, nystagmus, and white matter hyperintensities on brain MRI. </p>
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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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<p class="mim-text-font">
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Boukhris, A., Feki, I., Denis, E., Miladi, M. I., Brice, A., Mhiri, C., Stevanin, G.
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<strong>Spastic paraplegia 15: linkage and clinical description of three Tunisian families.</strong>
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Mov. Disord. 23: 429-433, 2008.
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[PubMed: 18098276]
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[Full Text: https://doi.org/10.1002/mds.21848]
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<li>
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<p class="mim-text-font">
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Casali, C., Valente, E. M., Bertini, E., Montagna, G., Criscuolo, C., De Michele, G., Villanova, M., Damiano, M., Pierallini, A., Brancati, F., Scarano, V., Tessa, A., and 11 others.
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<strong>Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.</strong>
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Neurology 62: 262-268, 2004.
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[PubMed: 14745065]
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[Full Text: https://doi.org/10.1212/wnl.62.2.262]
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</li>
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<li>
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<p class="mim-text-font">
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Elleuch, N., Bouslam, N., Hanein, S., Lossos, A., Hamri, A., Klebe, S., Meiner, V., Birouk, N., Lerer, I., Grid, D., Bacq, D., Tazir, M., Zelenika, D., Argov, Z., Durr, A., Yahyaoui, M., Benomar, A., Brice, A., Stevanin, G.
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<strong>Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.</strong>
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Neurogenetics 8: 307-315, 2007.
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[PubMed: 17661097]
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[Full Text: https://doi.org/10.1007/s10048-007-0097-x]
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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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Goizet, C., Boukhris, A., Maltete, D., Guyant-Marechal, L., Truchetto, J., Mundwiller, E., Hanein, S., Jonveaux, P., Roelens, F., Loureiro, J., Godet, E., Forlani, S., and 12 others.
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<strong>SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.</strong>
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Neurology 73: 1111-1119, 2009.
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[PubMed: 19805727]
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[Full Text: https://doi.org/10.1212/WNL.0b013e3181bacf59]
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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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Hanein, S., Martin, E., Boukhris, A., Byrne, P., Goizet, C., Hamri, A., Benomar, A., Lossos, A., Denora, P., Fernandez, J., Elleuch, N., Forlani, S., Durr, A., Feki, I., Hutchinson, M., Santorelli, F. M., Mhiri, C., Brice, A., Stevanin, G.
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<strong>Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.</strong>
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Am. J. Hum. Genet. 82: 992-1002, 2008.
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[PubMed: 18394578]
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[Full Text: https://doi.org/10.1016/j.ajhg.2008.03.004]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hughes, C. A., Byrne, P. C., Webb, S., McMonagle, P., Patterson, V., Hutchinson, M., Parfrey, N. A.
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<strong>SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q.</strong>
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Neurology 56: 1230-1233, 2001.
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[PubMed: 11342696]
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[Full Text: https://doi.org/10.1212/wnl.56.9.1230]
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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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Nagase, T., Ishikawa, K., Nakajima, D., Ohira, M., Seki, N., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
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DNA Res. 4: 141-150, 1997.
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[PubMed: 9205841]
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[Full Text: https://doi.org/10.1093/dnares/4.2.141]
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</p>
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<li>
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<p class="mim-text-font">
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Slabicki, M., Theis, M., Krastev, D. B., Samsonov, S., Mundwiller, E., Junqueira, M., Paszkowski-Rogacz, M., Teyra, J., Heninger, A.-K., Poser, I., Prieur, F., Truchetto, J., and 9 others.
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<strong>A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.</strong>
|
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PLoS Biol. 8: e1000408, 2010. Note: Electronic Article.
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[PubMed: 20613862]
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[Full Text: https://doi.org/10.1371/journal.pbio.1000408]
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</ol>
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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 : 3/23/2011<br>Patricia A. Hartz - updated : 11/22/2010<br>Cassandra L. Kniffin - updated : 4/30/2008
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</span>
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Creation Date:
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<span class="mim-text-font">
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Patricia A. Hartz : 4/25/2008
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carol : 12/15/2017<br>mgross : 09/17/2012<br>mgross : 11/29/2011<br>terry : 9/29/2011<br>wwang : 4/7/2011<br>ckniffin : 3/23/2011<br>terry : 11/30/2010<br>mgross : 11/22/2010<br>wwang : 5/1/2008<br>ckniffin : 4/30/2008<br>mgross : 4/25/2008
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