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Entry
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- *616554 - SPERM-ASSOCIATED ANTIGEN 17; SPAG17
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*616554</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/616554">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000155761;t=ENST00000336338" 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=200162" 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=616554" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000155761;t=ENST00000336338" 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_206996,XM_006710426,XM_006710427,XM_006710428,XM_011540934,XM_011540935,XM_011540936,XM_011540937,XM_011540939,XM_011540942,XM_047448722,XM_047448734,XM_047448753,XM_047448758,XR_946574" 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_206996" 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=616554" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.proteinatlas.org/search/SPAG17" 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/6808297,21750276,45479702,46240864,74749284,152032268,193785155,306415659,578798567,578798569,578798571,767902973,767902976,767902978,767902980,767902984,767902991,2217264851,2217264858,2217264863,2217264866,2462505789,2462505791,2462505793,2462505795,2462505797,2462505799,2462505801,2462505803,2462505805,2462505807,2462505809,2462505811,2462505813" 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/Q6Q759" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=200162" 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=ENSG00000155761;t=ENST00000336338" 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=SPAG17" 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=SPAG17" 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+200162" 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/SPAG17" 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:200162" 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/200162" 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=chr1&hgg_gene=ENST00000336338.10&hgg_start=117953590&hgg_end=118185228&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=616554[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=616554[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/SPAG17/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/ENSG00000155761" 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=SPAG17" 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=SPAG17" 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=SPAG17" 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=SPAG17&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/PA142670888" 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:26620" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1921612" 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/SPAG17#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:1921612" 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/200162/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=200162" 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-081104-362" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
|
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
|
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=SPAG17&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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616554
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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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SPERM-ASSOCIATED ANTIGEN 17; SPAG17
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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">
|
|
PF6, CHLAMYDOMONAS, HOMOLOG OF; PF6
|
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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=SPAG17" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SPAG17</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
|
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<strong>
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<em>
|
|
Cytogenetic location: <a href="/geneMap/1/969?start=-3&limit=10&highlight=969">1p12</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:117953590-118185228&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'})">1:117,953,590-118,185,228</a> </span>
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</em>
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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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/1/969?start=-3&limit=10&highlight=969">
|
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1p12
|
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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">
|
|
?Spermatogenic failure 55
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
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</span>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/619380"> 619380 </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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/616554" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/616554" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
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</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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|
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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.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>Cilia play key roles in determining left-right asymmetry, clearing mucus, particles, and fluid from airways, and facilitating the flow of cerebrospinal fluid. The axoneme of motile cilia has a 9+2 arrangement of 9 outer doublet microtubules surrounding a central pair of microtubules, designated C1 and C2. SPAG17 is a component of the central pair apparatus of ciliary axonemes (<a href="#4" class="mim-tip-reference" title="Teves, M. E., Zhang, Z., Costanzo, R. M., Henderson, S. C., Corwin, F. D., Zweit, J., Sundaresan, G., Subler, M., Salloum, F. N., Rubin, B. K., Strauss, J. F., III. <strong>Sperm-associated antigen-17 gene is essential for motile cilia function and neonatal survival.</strong> Am. J. Resp. Cell Molec. Biol. 48: 765-772, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23418344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23418344</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23418344[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/10.1165/rcmb.2012-0362OC" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23418344">Teves et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23418344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using Chlamydomonas reinhardtii Pf6 to search databases, followed by PCR of testis total RNA, <a href="#6" class="mim-tip-reference" title="Zhang, Z., Jones, B. H., Tang, W., Moss, S. B., Wei, Z., Ho, C., Pollack, M., Horowitz, E., Bennett, J., Baker, M. E., Strauss, J. F., III. <strong>Dissecting the axoneme interactome: the mammalian orthologue of Chlamydomonas PF6 interacts with sperm-associated antigen 6, the mammalian orthologue of Chlamydomonas PF16.</strong> Molec. Cell. Proteomics 4: 914-923, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15827353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15827353</a>] [<a href="https://doi.org/10.1074/mcp.M400177-MCP200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15827353">Zhang et al. (2005)</a> cloned mouse and human SPAG17, which they designated PF6. The full-length human cDNA (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AY555274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AY555274</a>) encodes a deduced 2,223-amino acid protein with an N-terminal proline-rich domain. The full-length mouse cDNA (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AY792594" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AY792594</a>) encodes a deduced 2,175-amino acid protein. <a href="#6" class="mim-tip-reference" title="Zhang, Z., Jones, B. H., Tang, W., Moss, S. B., Wei, Z., Ho, C., Pollack, M., Horowitz, E., Bennett, J., Baker, M. E., Strauss, J. F., III. <strong>Dissecting the axoneme interactome: the mammalian orthologue of Chlamydomonas PF6 interacts with sperm-associated antigen 6, the mammalian orthologue of Chlamydomonas PF16.</strong> Molec. Cell. Proteomics 4: 914-923, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15827353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15827353</a>] [<a href="https://doi.org/10.1074/mcp.M400177-MCP200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15827353">Zhang et al. (2005)</a> also cloned a splice variant of mouse Pf6 (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AY555275" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AY555275</a>) that encodes an 875-amino acid protein. Full-length human, mouse, and Chlamydomonas PF6 share 2 regions of significant similarity, one immediately after the proline-rich N-terminal region of human and Chlamydomonas PF6, and the other at the C terminus. Northern blot analysis detected highest expression of a 7.5-kb PF6 transcript in human testis, with much lower expression in brain, oviduct, lung, and uterus. A similar pattern of expression was detected for mouse Pf6. In mouse testis, Pf6 expression peaked at 20 days of postnatal life, when round spermatids appear and the flagellum is assembled. Western blot analysis of mouse testis detected proteins with apparent molecular masses of 250 and 97 kD, consistent with the predicted molecular masses of full-length Pf6 and the 875-amino acid isoform, respectively. Western blot analysis with antibodies directed to the N and C termini of the 97-kD mouse Pf6 isoform suggested processing of this isoform during spermatogenesis into N- and C-terminal fragments with apparent molecular masses of 72 and 28 kD, respectively. Immunohistochemical analysis of mouse sperm detected Pf6 along the length of the tail of epididymal sperm. Immunoelectron microscopy localized Pf6 asymmetrically at the central pair of microtubules in the sperm flagellar axoneme, suggesting that it may associate with a specific axonemal microtubule. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15827353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By coimmunostaining, <a href="#2" class="mim-tip-reference" title="Kazarian, E., Son, H., Sapao, P., Li, W., Zhang, Z., Strauss, J. F., III, Teves, M. E. <strong>SPAG17 is required for male germ cell differentiation and fertility.</strong> Int. J. Molec. Sci. 19: 1252, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29690537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29690537</a>] [<a href="https://doi.org/10.3390/ijms19041252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29690537">Kazarian et al. (2018)</a> analyzed Spag17 expression in mixed germ cells from 6-week-old mice and observed that Spag17 was present in the cytoplasm of germ cells and colocalized with the manchette microtubule structures in elongating spermatids. In sperm, Spag17 decorated the tail and acrosome. Spag17 colocalization with the acrosome and the Golgi apparatus was confirmed using a PSA lectin marker. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29690537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Baida, A., Akdi, M., Gonzalez-Flores, E., Galofre, P., Marcos, R., Velazquez, A. <strong>Strong association of chromosome 1p12 loci with thyroid cancer susceptibility.</strong> Cancer Epidemiol. Biomarkers Prev. 17: 1499-1504, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18559567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18559567</a>] [<a href="https://doi.org/10.1158/1055-9965.EPI-07-0235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18559567">Baida et al. (2008)</a> stated that the SPAG17 gene maps to chromosome 1p12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18559567" 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 coimmunoprecipitation analysis of transfected CHO cells, <a href="#6" class="mim-tip-reference" title="Zhang, Z., Jones, B. H., Tang, W., Moss, S. B., Wei, Z., Ho, C., Pollack, M., Horowitz, E., Bennett, J., Baker, M. E., Strauss, J. F., III. <strong>Dissecting the axoneme interactome: the mammalian orthologue of Chlamydomonas PF6 interacts with sperm-associated antigen 6, the mammalian orthologue of Chlamydomonas PF16.</strong> Molec. Cell. Proteomics 4: 914-923, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15827353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15827353</a>] [<a href="https://doi.org/10.1074/mcp.M400177-MCP200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15827353">Zhang et al. (2005)</a> found that the isolated C-terminal domain of the 97-kD mouse Pf6 isoform interacted with mouse Spag6 (<a href="/entry/605730">605730</a>). The 97-kD Pf6 isoform colocalized with Spag6 and decorated microtubules in cotransfected cells. The 28-kD C-terminal fragment of Pf6 was missing from epididymal sperm in Spag6 -/- mice, which showed loss of the central pair of microtubules in the axoneme. In contrast, localization of the axonemal 72-kD N-terminal fragment of Pf6 was unaffected in Spag6 -/- epididymal sperm. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15827353" 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 a consanguineous Chinese family in which infertile twin brothers had severely reduced sperm motility (SPGF55; <a href="/entry/619380">619380</a>), <a href="#5" class="mim-tip-reference" title="Xu, X., Sha, Y.-W., Mei, L.-B., Ji, Z.-Y., Qiu, P., Ji, H., Li, P., Wang, T., Li, L. <strong>A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing.</strong> Clin. Genet. 93: 345-349, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28548327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28548327</a>] [<a href="https://doi.org/10.1111/cge.13059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28548327">Xu et al. (2018)</a> identified homozygosity for a missense mutation in the SPAG17 gene (R1448Q; <a href="#0001">616554.0001</a>) that segregated fully with disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28548327" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Teves, M. E., Zhang, Z., Costanzo, R. M., Henderson, S. C., Corwin, F. D., Zweit, J., Sundaresan, G., Subler, M., Salloum, F. N., Rubin, B. K., Strauss, J. F., III. <strong>Sperm-associated antigen-17 gene is essential for motile cilia function and neonatal survival.</strong> Am. J. Resp. Cell Molec. Biol. 48: 765-772, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23418344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23418344</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23418344[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/10.1165/rcmb.2012-0362OC" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23418344">Teves et al. (2013)</a> found that Spag17 -/- mice were born at the expected mendelian ratio, but that they died within 12 hours of birth with severe defects in motile cilia. The phenotype of Spag17 -/- pups included immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress associated with lung fluid accumulation and disruption of alveolar epithelium, cerebral ventricular expansion consistent with emerging hydrocephalus, and failure to suckle. Ultrastructural analysis revealed loss of 1 central pair microtubule in approximately 25% of Spag17 -/- tracheal cilia axonemes, absence of a C1 microtubule projection, and other less frequent central pair structural abnormalities. Central pair proteins that interact with Spag17, such as Spag6 and Spag16 (<a href="/entry/612173">612173</a>), were increased in tracheal tissue from Spag17 -/- mice. <a href="#4" class="mim-tip-reference" title="Teves, M. E., Zhang, Z., Costanzo, R. M., Henderson, S. C., Corwin, F. D., Zweit, J., Sundaresan, G., Subler, M., Salloum, F. N., Rubin, B. K., Strauss, J. F., III. <strong>Sperm-associated antigen-17 gene is essential for motile cilia function and neonatal survival.</strong> Am. J. Resp. Cell Molec. Biol. 48: 765-772, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23418344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23418344</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23418344[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/10.1165/rcmb.2012-0362OC" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23418344">Teves et al. (2013)</a> concluded that SPAG17 plays a critical role in the function and structure of motile cilia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23418344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Teves, M. E., Sundaresan, G., Cohen, D. J., Hyzy, S. L., Kajan, I., Maczis, M., Zhang, Z., Costanzo, R. M., Zweit, J., Schwartz, Z., Boyan, B. D., Strauss, J. F., III. <strong>Spag17 deficiency results in skeletal malformations and bone abnormalities.</strong> PLoS One 10: e0125936, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26017218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26017218</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26017218[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.pone.0125936" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26017218">Teves et al. (2015)</a> reported that hindlimbs of Spag17 -/- newborn mouse pups were shorter than wildtype. The phenotype appeared to be due to altered patterning of femur and tibia, with premature ossification in femur and delayed cartilage and bone formation in tibia. Other skeletal malformations included fused sternebrae and reduced mineralization in skull and medial and metacarpal phalanges. Primary cilia from chondrocytes, osteoblasts, and embryonic fibroblasts (MEFs) isolated from Spag17 -/- mice were shorter, and fewer cells had primary cilia compared with wildtype. Knockdown of Spag17 in wildtype MEFs via small interfering RNA reproduced the short primary cilia phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26017218" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a conditional knockout mouse model, <a href="#2" class="mim-tip-reference" title="Kazarian, E., Son, H., Sapao, P., Li, W., Zhang, Z., Strauss, J. F., III, Teves, M. E. <strong>SPAG17 is required for male germ cell differentiation and fertility.</strong> Int. J. Molec. Sci. 19: 1252, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29690537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29690537</a>] [<a href="https://doi.org/10.3390/ijms19041252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29690537">Kazarian et al. (2018)</a> generated Spag17-null mice and observed male infertility due to a severe defect in spermatogenesis. Histologic evaluation of testis sections from mutant mice revealed seminiferous tubules with spermatogenesis arrested at the spermatid stage and cell debris in the cauda epididymis. The few sperm collected from the cauda epididymis were immotile and displayed abnormal tail and head morphology. Immunofluorescence analysis of Spag17 knockout germ cells showed spermatids with abnormally long manchette structures and morphologic defects in the head. Electron microscopy showed altered manchette microtubules, reduced chromatin condensation, irregular nuclear shape, and detached acrosomes. Additionally, the transport of proteins along the manchette microtubules was disrupted in the knockout elongating spermatids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29690537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=616554[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 SPERMATOGENIC FAILURE 55 (1 family)</strong>
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SPAG17, ARG1448GLN
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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> rs752115449 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs752115449;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/rs752115449?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=rs752115449" 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=rs752115449" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001526834" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001526834" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001526834</a>
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<span class="mim-text-font">
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<p>In infertile twin brothers with severely reduced sperm motility (SPGF55; <a href="/entry/619380">619380</a>), <a href="#5" class="mim-tip-reference" title="Xu, X., Sha, Y.-W., Mei, L.-B., Ji, Z.-Y., Qiu, P., Ji, H., Li, P., Wang, T., Li, L. <strong>A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing.</strong> Clin. Genet. 93: 345-349, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28548327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28548327</a>] [<a href="https://doi.org/10.1111/cge.13059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28548327">Xu et al. (2018)</a> identified homozygosity for a c.4343G-A transition (c.4343G-A, NM_206996) in exon 30 of the SPAG17 gene, resulting in an arg1448-to-gln (R1448Q) substitution at a highly conserved residue. Their unaffected consanguineous parents and a fertile brother were heterozygous for the mutation, which was present at low minor allele frequency (0.0016) in the East Asian population of the ExAC database. Immunofluorescence analysis of patient sperm showed low SPAG17 expression in the flagella compared to wildtype; the low expression level was confirmed by Western blot. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28548327" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Baida2008" class="mim-anchor"></a>
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<div class="">
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Baida, A., Akdi, M., Gonzalez-Flores, E., Galofre, P., Marcos, R., Velazquez, A.
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<strong>Strong association of chromosome 1p12 loci with thyroid cancer susceptibility.</strong>
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Cancer Epidemiol. Biomarkers Prev. 17: 1499-1504, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18559567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18559567</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18559567" 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/10.1158/1055-9965.EPI-07-0235" target="_blank">Full Text</a>]
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<a id="Kazarian2018" class="mim-anchor"></a>
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Kazarian, E., Son, H., Sapao, P., Li, W., Zhang, Z., Strauss, J. F., III, Teves, M. E.
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<strong>SPAG17 is required for male germ cell differentiation and fertility.</strong>
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Int. J. Molec. Sci. 19: 1252, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29690537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29690537</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29690537" 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/10.3390/ijms19041252" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Teves2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Teves, M. E., Sundaresan, G., Cohen, D. J., Hyzy, S. L., Kajan, I., Maczis, M., Zhang, Z., Costanzo, R. M., Zweit, J., Schwartz, Z., Boyan, B. D., Strauss, J. F., III.
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<strong>Spag17 deficiency results in skeletal malformations and bone abnormalities.</strong>
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PLoS One 10: e0125936, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26017218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26017218</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26017218[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=26017218" 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.pone.0125936" target="_blank">Full Text</a>]
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Teves2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Teves, M. E., Zhang, Z., Costanzo, R. M., Henderson, S. C., Corwin, F. D., Zweit, J., Sundaresan, G., Subler, M., Salloum, F. N., Rubin, B. K., Strauss, J. F., III.
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<strong>Sperm-associated antigen-17 gene is essential for motile cilia function and neonatal survival.</strong>
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Am. J. Resp. Cell Molec. Biol. 48: 765-772, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23418344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23418344</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23418344[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=23418344" 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/10.1165/rcmb.2012-0362OC" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Xu2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Xu, X., Sha, Y.-W., Mei, L.-B., Ji, Z.-Y., Qiu, P., Ji, H., Li, P., Wang, T., Li, L.
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<strong>A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing.</strong>
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Clin. Genet. 93: 345-349, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28548327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28548327</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28548327" 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/10.1111/cge.13059" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Zhang2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhang, Z., Jones, B. H., Tang, W., Moss, S. B., Wei, Z., Ho, C., Pollack, M., Horowitz, E., Bennett, J., Baker, M. E., Strauss, J. F., III.
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<strong>Dissecting the axoneme interactome: the mammalian orthologue of Chlamydomonas PF6 interacts with sperm-associated antigen 6, the mammalian orthologue of Chlamydomonas PF16.</strong>
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Molec. Cell. Proteomics 4: 914-923, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15827353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15827353</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15827353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/mcp.M400177-MCP200" target="_blank">Full Text</a>]
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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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Marla J. F. O'Neill - updated : 06/16/2021
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Patricia A. Hartz : 9/16/2015
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alopez : 06/16/2021
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<span class="mim-text-font">
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mgross : 09/16/2015<br>mgross : 9/16/2015
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<span class="mim-font">
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<strong>*</strong> 616554
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<h3>
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SPERM-ASSOCIATED ANTIGEN 17; SPAG17
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</span>
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<em>Alternative titles; symbols</em>
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PF6, CHLAMYDOMONAS, HOMOLOG OF; PF6
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<strong><em>HGNC Approved Gene Symbol: SPAG17</em></strong>
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Cytogenetic location: 1p12
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:117,953,590-118,185,228 </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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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<td rowspan="1">
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<span class="mim-font">
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1p12
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<span class="mim-font">
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?Spermatogenic failure 55
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<span class="mim-font">
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619380
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<span class="mim-font">
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Autosomal recessive
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>Cilia play key roles in determining left-right asymmetry, clearing mucus, particles, and fluid from airways, and facilitating the flow of cerebrospinal fluid. The axoneme of motile cilia has a 9+2 arrangement of 9 outer doublet microtubules surrounding a central pair of microtubules, designated C1 and C2. SPAG17 is a component of the central pair apparatus of ciliary axonemes (Teves et al., 2013). </p>
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<strong>Cloning and Expression</strong>
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<p>Using Chlamydomonas reinhardtii Pf6 to search databases, followed by PCR of testis total RNA, Zhang et al. (2005) cloned mouse and human SPAG17, which they designated PF6. The full-length human cDNA (GenBank AY555274) encodes a deduced 2,223-amino acid protein with an N-terminal proline-rich domain. The full-length mouse cDNA (GenBank AY792594) encodes a deduced 2,175-amino acid protein. Zhang et al. (2005) also cloned a splice variant of mouse Pf6 (GenBank AY555275) that encodes an 875-amino acid protein. Full-length human, mouse, and Chlamydomonas PF6 share 2 regions of significant similarity, one immediately after the proline-rich N-terminal region of human and Chlamydomonas PF6, and the other at the C terminus. Northern blot analysis detected highest expression of a 7.5-kb PF6 transcript in human testis, with much lower expression in brain, oviduct, lung, and uterus. A similar pattern of expression was detected for mouse Pf6. In mouse testis, Pf6 expression peaked at 20 days of postnatal life, when round spermatids appear and the flagellum is assembled. Western blot analysis of mouse testis detected proteins with apparent molecular masses of 250 and 97 kD, consistent with the predicted molecular masses of full-length Pf6 and the 875-amino acid isoform, respectively. Western blot analysis with antibodies directed to the N and C termini of the 97-kD mouse Pf6 isoform suggested processing of this isoform during spermatogenesis into N- and C-terminal fragments with apparent molecular masses of 72 and 28 kD, respectively. Immunohistochemical analysis of mouse sperm detected Pf6 along the length of the tail of epididymal sperm. Immunoelectron microscopy localized Pf6 asymmetrically at the central pair of microtubules in the sperm flagellar axoneme, suggesting that it may associate with a specific axonemal microtubule. </p><p>By coimmunostaining, Kazarian et al. (2018) analyzed Spag17 expression in mixed germ cells from 6-week-old mice and observed that Spag17 was present in the cytoplasm of germ cells and colocalized with the manchette microtubule structures in elongating spermatids. In sperm, Spag17 decorated the tail and acrosome. Spag17 colocalization with the acrosome and the Golgi apparatus was confirmed using a PSA lectin marker. </p>
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<strong>Mapping</strong>
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<p>Baida et al. (2008) stated that the SPAG17 gene maps to chromosome 1p12. </p>
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<strong>Gene Function</strong>
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<p>By coimmunoprecipitation analysis of transfected CHO cells, Zhang et al. (2005) found that the isolated C-terminal domain of the 97-kD mouse Pf6 isoform interacted with mouse Spag6 (605730). The 97-kD Pf6 isoform colocalized with Spag6 and decorated microtubules in cotransfected cells. The 28-kD C-terminal fragment of Pf6 was missing from epididymal sperm in Spag6 -/- mice, which showed loss of the central pair of microtubules in the axoneme. In contrast, localization of the axonemal 72-kD N-terminal fragment of Pf6 was unaffected in Spag6 -/- epididymal sperm. </p>
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<strong>Molecular Genetics</strong>
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<p>In a consanguineous Chinese family in which infertile twin brothers had severely reduced sperm motility (SPGF55; 619380), Xu et al. (2018) identified homozygosity for a missense mutation in the SPAG17 gene (R1448Q; 616554.0001) that segregated fully with disease. </p>
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<strong>Animal Model</strong>
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<p>Teves et al. (2013) found that Spag17 -/- mice were born at the expected mendelian ratio, but that they died within 12 hours of birth with severe defects in motile cilia. The phenotype of Spag17 -/- pups included immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress associated with lung fluid accumulation and disruption of alveolar epithelium, cerebral ventricular expansion consistent with emerging hydrocephalus, and failure to suckle. Ultrastructural analysis revealed loss of 1 central pair microtubule in approximately 25% of Spag17 -/- tracheal cilia axonemes, absence of a C1 microtubule projection, and other less frequent central pair structural abnormalities. Central pair proteins that interact with Spag17, such as Spag6 and Spag16 (612173), were increased in tracheal tissue from Spag17 -/- mice. Teves et al. (2013) concluded that SPAG17 plays a critical role in the function and structure of motile cilia. </p><p>Teves et al. (2015) reported that hindlimbs of Spag17 -/- newborn mouse pups were shorter than wildtype. The phenotype appeared to be due to altered patterning of femur and tibia, with premature ossification in femur and delayed cartilage and bone formation in tibia. Other skeletal malformations included fused sternebrae and reduced mineralization in skull and medial and metacarpal phalanges. Primary cilia from chondrocytes, osteoblasts, and embryonic fibroblasts (MEFs) isolated from Spag17 -/- mice were shorter, and fewer cells had primary cilia compared with wildtype. Knockdown of Spag17 in wildtype MEFs via small interfering RNA reproduced the short primary cilia phenotype. </p><p>Using a conditional knockout mouse model, Kazarian et al. (2018) generated Spag17-null mice and observed male infertility due to a severe defect in spermatogenesis. Histologic evaluation of testis sections from mutant mice revealed seminiferous tubules with spermatogenesis arrested at the spermatid stage and cell debris in the cauda epididymis. The few sperm collected from the cauda epididymis were immotile and displayed abnormal tail and head morphology. Immunofluorescence analysis of Spag17 knockout germ cells showed spermatids with abnormally long manchette structures and morphologic defects in the head. Electron microscopy showed altered manchette microtubules, reduced chromatin condensation, irregular nuclear shape, and detached acrosomes. Additionally, the transport of proteins along the manchette microtubules was disrupted in the knockout elongating spermatids. </p>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>1 Selected Example):</strong>
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</span>
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</h4>
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<div>
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<p />
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<h4>
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<span class="mim-font">
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<strong>.0001 SPERMATOGENIC FAILURE 55 (1 family)</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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SPAG17, ARG1448GLN
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<br />
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SNP: rs752115449,
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gnomAD: rs752115449,
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ClinVar: RCV001526834
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<div>
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<span class="mim-text-font">
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<p>In infertile twin brothers with severely reduced sperm motility (SPGF55; 619380), Xu et al. (2018) identified homozygosity for a c.4343G-A transition (c.4343G-A, NM_206996) in exon 30 of the SPAG17 gene, resulting in an arg1448-to-gln (R1448Q) substitution at a highly conserved residue. Their unaffected consanguineous parents and a fertile brother were heterozygous for the mutation, which was present at low minor allele frequency (0.0016) in the East Asian population of the ExAC database. Immunofluorescence analysis of patient sperm showed low SPAG17 expression in the flagella compared to wildtype; the low expression level was confirmed by Western blot. </p>
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</span>
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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 />
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Baida, A., Akdi, M., Gonzalez-Flores, E., Galofre, P., Marcos, R., Velazquez, A.
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<strong>Strong association of chromosome 1p12 loci with thyroid cancer susceptibility.</strong>
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Cancer Epidemiol. Biomarkers Prev. 17: 1499-1504, 2008.
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[PubMed: 18559567]
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[Full Text: https://doi.org/10.1158/1055-9965.EPI-07-0235]
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Kazarian, E., Son, H., Sapao, P., Li, W., Zhang, Z., Strauss, J. F., III, Teves, M. E.
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<strong>SPAG17 is required for male germ cell differentiation and fertility.</strong>
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Int. J. Molec. Sci. 19: 1252, 2018.
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[PubMed: 29690537]
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[Full Text: https://doi.org/10.3390/ijms19041252]
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<li>
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Teves, M. E., Sundaresan, G., Cohen, D. J., Hyzy, S. L., Kajan, I., Maczis, M., Zhang, Z., Costanzo, R. M., Zweit, J., Schwartz, Z., Boyan, B. D., Strauss, J. F., III.
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<strong>Spag17 deficiency results in skeletal malformations and bone abnormalities.</strong>
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PLoS One 10: e0125936, 2015.
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[PubMed: 26017218]
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[Full Text: https://doi.org/10.1371/journal.pone.0125936]
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<li>
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<p class="mim-text-font">
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Teves, M. E., Zhang, Z., Costanzo, R. M., Henderson, S. C., Corwin, F. D., Zweit, J., Sundaresan, G., Subler, M., Salloum, F. N., Rubin, B. K., Strauss, J. F., III.
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<strong>Sperm-associated antigen-17 gene is essential for motile cilia function and neonatal survival.</strong>
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Am. J. Resp. Cell Molec. Biol. 48: 765-772, 2013.
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[PubMed: 23418344]
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[Full Text: https://doi.org/10.1165/rcmb.2012-0362OC]
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<p class="mim-text-font">
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Xu, X., Sha, Y.-W., Mei, L.-B., Ji, Z.-Y., Qiu, P., Ji, H., Li, P., Wang, T., Li, L.
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<strong>A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing.</strong>
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Clin. Genet. 93: 345-349, 2018.
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[PubMed: 28548327]
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[Full Text: https://doi.org/10.1111/cge.13059]
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<li>
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<p class="mim-text-font">
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Zhang, Z., Jones, B. H., Tang, W., Moss, S. B., Wei, Z., Ho, C., Pollack, M., Horowitz, E., Bennett, J., Baker, M. E., Strauss, J. F., III.
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<strong>Dissecting the axoneme interactome: the mammalian orthologue of Chlamydomonas PF6 interacts with sperm-associated antigen 6, the mammalian orthologue of Chlamydomonas PF16.</strong>
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Molec. Cell. Proteomics 4: 914-923, 2005.
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[PubMed: 15827353]
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[Full Text: https://doi.org/10.1074/mcp.M400177-MCP200]
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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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Marla J. F. O'Neill - updated : 06/16/2021
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<span class="mim-text-font">
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Patricia A. Hartz : 9/16/2015
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alopez : 06/16/2021<br>mgross : 09/16/2015<br>mgross : 9/16/2015
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<p>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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