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<title>
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Entry
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- *603539 - CATHEPSIN F; CTSF
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- OMIM
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</ul>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</form>
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<p />
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603539</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603539">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
|
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
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</a>
|
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</span>
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</span>
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</div>
|
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000174080;t=ENST00000310325" 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=8722" 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=603539" 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=ENSG00000174080;t=ENST00000310325" 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_003793,XM_011545328" 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_003793" 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=603539" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
|
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
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</a>
|
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</span>
|
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</span>
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</div>
|
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=04643&isoform_id=04643_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/CTSF" 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/3916212,3916214,4731642,4826528,5305722,6042196,6467382,6808322,12643325,15079738,22209085,49456321,119594953,119594954,189053904,767968952,2462528449" 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/Q9UBX1" 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=8722" 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=ENSG00000174080;t=ENST00000310325" 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=CTSF" 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=CTSF" 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+8722" 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/CTSF" 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:8722" 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/8722" 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=chr11&hgg_gene=ENST00000310325.10&hgg_start=66563464&hgg_end=66568606&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:2531" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603539[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=603539[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000174080" 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=CTSF" 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=CTSF" 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=CTSF" 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=CTSF&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/PA27031" 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:2531" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0260462.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1861434" 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/CTSF#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:1861434" 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/8722/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=8722" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00007055;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-9831" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8722" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=CTSF&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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603539
|
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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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CATHEPSIN F; CTSF
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CTSF" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CTSF</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>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/11/641?start=-3&limit=10&highlight=641">11q13.2</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:66563464-66568606&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'})">11:66,563,464-66,568,606</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/641?start=-3&limit=10&highlight=641">
|
|
11q13.2
|
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</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Ceroid lipofuscinosis, neuronal, 13 (Kufs type)
|
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|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/615362"> 615362 </a>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
|
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<p>Cathepsin F (<a href="https://enzyme.expasy.org/EC/3.4.22.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.4.22.41</a>) is a member of the papain family of cysteine proteases. These enzymes represent a major component of the lysosomal proteolytic system. They are synthesized as inactive precursors consisting of a signal sequence, a propeptide, and a catalytically active mature region. Cathepsins are routed to the endosomal/lysosomal compartment via the mannose 6-phosphate receptor pathway. Activation of the proenzyme usually occurs following cleavage and dissociation of the N-terminal proregion, which constitutes a regulatory element of the enzyme's proteolytic activity. Peptides corresponding to the proregions of cysteine proteases are potent, selective inhibitors of the parent enzymes (review by <a href="#2" class="mim-tip-reference" title="Nagler, D. K., Sulea, T., Menard, R. <strong>Full-length cDNA of human cathepsin F predicts the presence of a cystatin domain at the N-terminus of the cysteine protease zymogen.</strong> Biochem. Biophys. Res. Commun. 257: 313-318, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10198209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10198209</a>] [<a href="https://doi.org/10.1006/bbrc.1999.0461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10198209">Nagler et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10198209" 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 PCR of a human alveolar lung macrophage cDNA library using degenerate primers based on conserved regions of papain superfamily members, <a href="#6" class="mim-tip-reference" title="Wang, B., Shi, G.-P., Yao, P. M., Li, Z., Chapman, H. A., Bromme, D. <strong>Human cathepsin F: molecular cloning, functional expression, tissue localization, and enzymatic characterization.</strong> J. Biol. Chem. 273: 32000-32008, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9822672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9822672</a>] [<a href="https://doi.org/10.1074/jbc.273.48.32000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9822672">Wang et al. (1998)</a> isolated a partial cathepsin F cDNA. Using several methods, they cloned additional cathepsin F cDNAs, including a skeletal muscle cDNA that they stated contains the entire coding region. Sequence analysis revealed that the 302-amino acid cathepsin F protein predicted from their skeletal muscle cDNA has a prodomain and a mature region but lacks a signal sequence. Transient expression of an epitope-tagged cathepsin F in mammalian cells revealed a vesicular distribution of the protein in the juxtanuclear region of the cells, a typical pattern for lysosomes. Based on these results, <a href="#6" class="mim-tip-reference" title="Wang, B., Shi, G.-P., Yao, P. M., Li, Z., Chapman, H. A., Bromme, D. <strong>Human cathepsin F: molecular cloning, functional expression, tissue localization, and enzymatic characterization.</strong> J. Biol. Chem. 273: 32000-32008, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9822672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9822672</a>] [<a href="https://doi.org/10.1074/jbc.273.48.32000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9822672">Wang et al. (1998)</a> suggested that cathepsin F is targeted to the lysosomal compartment via a signal peptide-independent lysosomal targeting pathway. (<a href="#3" class="mim-tip-reference" title="Santamaria, I., Velasco, G., Pendas, A. M., Paz, A., Lopez-Otin, C. <strong>Molecular cloning and structural and functional characterization of human cathepsin F, a new cysteine proteinase of the papain family with a long propeptide domain.</strong> J. Biol. Chem. 274: 13800-13809, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10318784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10318784</a>] [<a href="https://doi.org/10.1074/jbc.274.20.13800" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10318784">Santamaria et al. (1999)</a> and <a href="#2" class="mim-tip-reference" title="Nagler, D. K., Sulea, T., Menard, R. <strong>Full-length cDNA of human cathepsin F predicts the presence of a cystatin domain at the N-terminus of the cysteine protease zymogen.</strong> Biochem. Biophys. Res. Commun. 257: 313-318, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10198209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10198209</a>] [<a href="https://doi.org/10.1006/bbrc.1999.0461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10198209">Nagler et al. (1999)</a> later found that the cDNA cloned by <a href="#6" class="mim-tip-reference" title="Wang, B., Shi, G.-P., Yao, P. M., Li, Z., Chapman, H. A., Bromme, D. <strong>Human cathepsin F: molecular cloning, functional expression, tissue localization, and enzymatic characterization.</strong> J. Biol. Chem. 273: 32000-32008, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9822672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9822672</a>] [<a href="https://doi.org/10.1074/jbc.273.48.32000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9822672">Wang et al. (1998)</a> is a partial cathepsin F cDNA lacking 5-prime coding sequence. They showed that cathepsin F does contain a signal peptide and suggested that cathepsin F is targeted to the lysosomal compartment by the mannose 6-phosphate receptor pathway.) The cathepsin F protein shares 42% sequence identity with cathepsin W (<a href="/entry/602364">602364</a>). Recombinant mature cathepsin F was highly active, with specific activities toward synthetic substrates comparable to those reported for cathepsin L (<a href="/entry/116880">116880</a>), which was the most catalytically active lysosomal cysteine protease known. Northern blot analysis demonstrated that the cathepsin F gene is ubiquitously expressed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10198209+10318784+9822672" 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 searching an EST database for sequences with significant similarity to members of the papain family of cysteine proteases, <a href="#3" class="mim-tip-reference" title="Santamaria, I., Velasco, G., Pendas, A. M., Paz, A., Lopez-Otin, C. <strong>Molecular cloning and structural and functional characterization of human cathepsin F, a new cysteine proteinase of the papain family with a long propeptide domain.</strong> J. Biol. Chem. 274: 13800-13809, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10318784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10318784</a>] [<a href="https://doi.org/10.1074/jbc.274.20.13800" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10318784">Santamaria et al. (1999)</a> identified several overlapping ESTs encoding cathepsin F. Using a probe derived from these ESTs, they screened a human prostate cDNA library and isolated a full-length cathepsin F cDNA. The predicted 484-amino acid protein has the same domain organization as other cysteine proteases, including a signal sequence, a propeptide, and a catalytic region. However, compared to the propeptide domains of other papain family proteases, the cathepsin F propeptide domain is unusually long, consisting of 251 residues. Cathepsin F also has all the structural motifs of cysteine proteases, including the essential cysteine residue of the active site. The authors suggested that at least 1 of the protein's 5 potential glycosylation sites is effectively glycosylated and has attached the mannose 6-phosphate marker required for lysosomal targeting. The human cathepsin F protein is 72% identical to mouse cathepsin F and 37% identical to human cathepsin L2 (<a href="/entry/603308">603308</a>). Northern blot analysis detected an approximately 2.1-kb cathepsin F transcript in most normal human tissues, with the highest expression in skeletal muscle and testis. This transcript was also found in several cancer cell lines. <a href="#3" class="mim-tip-reference" title="Santamaria, I., Velasco, G., Pendas, A. M., Paz, A., Lopez-Otin, C. <strong>Molecular cloning and structural and functional characterization of human cathepsin F, a new cysteine proteinase of the papain family with a long propeptide domain.</strong> J. Biol. Chem. 274: 13800-13809, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10318784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10318784</a>] [<a href="https://doi.org/10.1074/jbc.274.20.13800" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10318784">Santamaria et al. (1999)</a> stated that the cathepsin F cDNA isolated by them is identical to the cathepsin F cDNA reported by <a href="#6" class="mim-tip-reference" title="Wang, B., Shi, G.-P., Yao, P. M., Li, Z., Chapman, H. A., Bromme, D. <strong>Human cathepsin F: molecular cloning, functional expression, tissue localization, and enzymatic characterization.</strong> J. Biol. Chem. 273: 32000-32008, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9822672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9822672</a>] [<a href="https://doi.org/10.1074/jbc.273.48.32000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9822672">Wang et al. (1998)</a> in the 3-prime region but contains an extended open reading frame at the 5-prime end that encodes more than 180 amino acids, including a signal peptide. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9822672+10318784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Nagler, D. K., Sulea, T., Menard, R. <strong>Full-length cDNA of human cathepsin F predicts the presence of a cystatin domain at the N-terminus of the cysteine protease zymogen.</strong> Biochem. Biophys. Res. Commun. 257: 313-318, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10198209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10198209</a>] [<a href="https://doi.org/10.1006/bbrc.1999.0461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10198209">Nagler et al. (1999)</a> searched an EST database for novel cysteine proteases and identified a human cathepsin F EST. Using PCR, they amplified the full-length cathepsin F coding sequence from a human ovary cDNA library. Since the deduced 484-amino acid cathepsin F protein has a signal sequence and potential glycosylation sites, the authors suggested that cathepsin F is targeted to the endosomal/lysosomal compartment via the mannose 6-phosphate receptor pathway. The mature region of the cathepsin F protein is 26 to 42% identical to other mature human cathepsins, whereas its proregion is unique in both its length and sequence. The very long proregion can be divided into 3 regions: an N-terminal domain with a cystatin-like fold, an approximately 50-residue flexible linker peptide, and a C-terminal domain that is similar to the proregion of cathepsin L-like enzymes. Cathepsin F is the first cysteine protease zymogen identified that contains a cystatin-like domain. Cystatins (see <a href="/entry/603253">603253</a>) are reversible tight-binding inhibitors of lysosomal cysteine proteases and are believed to regulate proteolytic activity in vivo. The cystatin-like domain of cathepsin F contains some of the elements known to be important for inhibitory activity. <a href="#2" class="mim-tip-reference" title="Nagler, D. K., Sulea, T., Menard, R. <strong>Full-length cDNA of human cathepsin F predicts the presence of a cystatin domain at the N-terminus of the cysteine protease zymogen.</strong> Biochem. Biophys. Res. Commun. 257: 313-318, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10198209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10198209</a>] [<a href="https://doi.org/10.1006/bbrc.1999.0461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10198209">Nagler et al. (1999)</a> noted that the cathepsin F cDNA reported by <a href="#6" class="mim-tip-reference" title="Wang, B., Shi, G.-P., Yao, P. M., Li, Z., Chapman, H. A., Bromme, D. <strong>Human cathepsin F: molecular cloning, functional expression, tissue localization, and enzymatic characterization.</strong> J. Biol. Chem. 273: 32000-32008, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9822672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9822672</a>] [<a href="https://doi.org/10.1074/jbc.273.48.32000" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9822672">Wang et al. (1998)</a> lacks the 5-prime untranslated region and 226 bp of coding sequence, including the initiating ATG codon and the nucleotides encoding the signal peptide. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10198209+9822672" 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 FISH and analysis of somatic cell hybrids, <a href="#3" class="mim-tip-reference" title="Santamaria, I., Velasco, G., Pendas, A. M., Paz, A., Lopez-Otin, C. <strong>Molecular cloning and structural and functional characterization of human cathepsin F, a new cysteine proteinase of the papain family with a long propeptide domain.</strong> J. Biol. Chem. 274: 13800-13809, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10318784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10318784</a>] [<a href="https://doi.org/10.1074/jbc.274.20.13800" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10318784">Santamaria et al. (1999)</a> mapped the CTSF gene to 11q13, the same region where the cathepsin W gene is located. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10318784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 2 unrelated families with autosomal recessive Kufs-type neuronal ceroid lipofuscinosis (CLN13; <a href="/entry/615362">615362</a>), <a href="#4" class="mim-tip-reference" title="Smith, K. R., Dahl, H.-H. M., Canafoglia, L., Andermann, E., Damiano, J., Morbin, M., Bruni, A. C., Giaccone, G., Cossette, P., Saftig, P., Grotzinger, J., Schwake, M., and 11 others. <strong>Cathepsin F mutations cause type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.</strong> Hum. Molec. Genet. 22: 1417-1423, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23297359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23297359</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23297359[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/10.1093/hmg/dds558" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23297359">Smith et al. (2013)</a> identified homozygous or compound heterozygous mutations in the CTSF gene (<a href="#0001">603539.0001</a>-<a href="#0003">603539.0003</a>). The mutations, which were found by linkage analysis combined with exome sequencing, segregated with the disorder and were not found in several large control databases. Sequencing of the CTSF gene in 22 unrelated probands with suspected Kufs disease identified compound heterozygous mutations (<a href="#0004">603539.0004</a>-<a href="#0005">603539.0005</a>) in 1 patient. Molecular modeling predicted that the mutations were pathogenic, and <a href="#4" class="mim-tip-reference" title="Smith, K. R., Dahl, H.-H. M., Canafoglia, L., Andermann, E., Damiano, J., Morbin, M., Bruni, A. C., Giaccone, G., Cossette, P., Saftig, P., Grotzinger, J., Schwake, M., and 11 others. <strong>Cathepsin F mutations cause type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.</strong> Hum. Molec. Genet. 22: 1417-1423, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23297359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23297359</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23297359[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/10.1093/hmg/dds558" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23297359">Smith et al. (2013)</a> noted that Ctsf-null mice develop a similar neurodegenerative disorder (<a href="#5" class="mim-tip-reference" title="Tang, C.-H., Lee, J.-W., Galvez, M. G., Robillard, L., Mole, S. E., Chapman, H. A. <strong>Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease.</strong> Molec. Cell. Biol. 26: 2309-2316, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16508006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16508006</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16508006[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.26.6.2309-2316.2006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16508006">Tang et al., 2006</a>). The findings implicated CTSF dysfunction in this disorder, which was characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16508006+23297359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of an Italian family with CLN13, <a href="#1" class="mim-tip-reference" title="Di Fabio, R., Moro, F., Pestillo, L., Meschini, M. C., Pezzini, F., Doccini, S., Casali, C., Pierelli, F., Simonati, A., Santorelli, F. M. <strong>Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease.</strong> Neurology 83: 1769-1770, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25274848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25274848</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25274848">Di Fabio et al. (2014)</a> identified a homozygous splice site mutation in the CTSF gene (<a href="#0006">603539.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25274848" 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="#5" class="mim-tip-reference" title="Tang, C.-H., Lee, J.-W., Galvez, M. G., Robillard, L., Mole, S. E., Chapman, H. A. <strong>Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease.</strong> Molec. Cell. Biol. 26: 2309-2316, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16508006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16508006</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16508006[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.26.6.2309-2316.2006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16508006">Tang et al. (2006)</a> found high expression of the Ctsf gene in murine adrenal gland, liver, kidney, testis, and ovary, with lower expression in the heart and uterus. Expression was also found in lysosomes within cells of the brain and spinal cord. Ctsf-null mice developed normally, but had onset of a progressive neurologic disorder between 12 and 16 months of age. Mutant mice showed progressive difficulty walking, with hind leg weakness, decline in motor coordination, and general wasting. Other features included tonic hind leg extension, poor balance, tremor, and spasticity. Some mice had seizures. Ctsf-null mice died within 4 to 6 months of symptom onset. Postmortem examination showed substantial gliosis in the brain and spinal cord, neuronal loss, and an accumulation of cytoplasmic eosinophilic and autofluorescent granules in neurons and glial cells. Ultrastructural analysis confirmed membrane-bound lamellar inclusions in fingerprint patterns, consistent with lipofuscin. The phenotype was reminiscent of human adult-onset neuronal ceroid lipofuscinosis (see, e.g., CLN4A, <a href="/entry/204300">204300</a>), but no CTSF mutations were identified in 13 unrelated patients with that disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16508006" 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 French Canadian woman, born of consanguineous parents, with adult-onset neuronal ceroid lipofuscinosis-13 (CLN13; <a href="/entry/615362">615362</a>), <a href="#4" class="mim-tip-reference" title="Smith, K. R., Dahl, H.-H. M., Canafoglia, L., Andermann, E., Damiano, J., Morbin, M., Bruni, A. C., Giaccone, G., Cossette, P., Saftig, P., Grotzinger, J., Schwake, M., and 11 others. <strong>Cathepsin F mutations cause type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.</strong> Hum. Molec. Genet. 22: 1417-1423, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23297359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23297359</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23297359[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/10.1093/hmg/dds558" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23297359">Smith et al. (2013)</a> identified a homozygous c.962A-G transition in exon 7 of the CTSF gene, resulting in a gln321-to-arg (Q321R) substitution at a highly conserved residue in the peptidase C1 domain towards the C-terminal end. The mutation, which was found by linkage analysis combined with exome sequencing and confirmed by Sanger sequencing, was not found in several large control databases and segregated with the disorder in the family. Molecular modeling predicted that the Q321R substitution would result in a conformational change in the binding loop that would lower catalytic efficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23297359" 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 2 Italian sibs with adult-onset neuronal ceroid lipofuscinosis-13 (CLN13; <a href="/entry/615362">615362</a>), <a href="#4" class="mim-tip-reference" title="Smith, K. R., Dahl, H.-H. M., Canafoglia, L., Andermann, E., Damiano, J., Morbin, M., Bruni, A. C., Giaccone, G., Cossette, P., Saftig, P., Grotzinger, J., Schwake, M., and 11 others. <strong>Cathepsin F mutations cause type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.</strong> Hum. Molec. Genet. 22: 1417-1423, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23297359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23297359</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23297359[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/10.1093/hmg/dds558" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23297359">Smith et al. (2013)</a> identified compound heterozygous mutations in the CTSF gene: a c.1373G-C transversion in exon 12 resulting in a gly458-to-ala (G458A) substitution, and a c.1439C-T transition in exon 13 resulting in a ser480-to-leu (S480L; <a href="#0003">603539.0003</a>) substitution. The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and were not found in several large control databases. Both mutations occurred at highly conserved residues in the peptidase C1 domain towards the C-terminal end. Molecular modeling predicted that each mutation would lead to a conformational change or protein misfolding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23297359" 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>For discussion of the ser480-to-leu (S480L) mutation in the CTSF gene that was found in compound heterozygous state in patients with adult-onset neuronal ceroid lipofuscinosis-13 (CLN13; <a href="/entry/615362">615362</a>) by <a href="#4" class="mim-tip-reference" title="Smith, K. R., Dahl, H.-H. M., Canafoglia, L., Andermann, E., Damiano, J., Morbin, M., Bruni, A. C., Giaccone, G., Cossette, P., Saftig, P., Grotzinger, J., Schwake, M., and 11 others. <strong>Cathepsin F mutations cause type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.</strong> Hum. Molec. Genet. 22: 1417-1423, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23297359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23297359</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23297359[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/10.1093/hmg/dds558" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23297359">Smith et al. (2013)</a>, see <a href="#0002">603539.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23297359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE)</strong>
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CTSF, TYR231CYS (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs143889283;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs143889283</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs143889283 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs143889283;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/rs143889283?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=rs143889283" 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=rs143889283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000054493 OR RCV003415822" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054493, RCV003415822" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054493...</a>
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<p>In a 41-year-old Australian woman with adult-onset neuronal ceroid lipofuscinosis-13 (CLN13; <a href="/entry/615362">615362</a>), <a href="#4" class="mim-tip-reference" title="Smith, K. R., Dahl, H.-H. M., Canafoglia, L., Andermann, E., Damiano, J., Morbin, M., Bruni, A. C., Giaccone, G., Cossette, P., Saftig, P., Grotzinger, J., Schwake, M., and 11 others. <strong>Cathepsin F mutations cause type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.</strong> Hum. Molec. Genet. 22: 1417-1423, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23297359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23297359</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23297359[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/10.1093/hmg/dds558" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23297359">Smith et al. (2013)</a> identified compound heterozygous mutations in the CTSF gene: a c.962A-G transition in exon 5 resulting in a tyr231-to-cys (Y231C; <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs143889283;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs143889283</a>) substitution at a highly conserved residue in the 129 propeptide inhibitor domain, and a 1-bp deletion in exon 7 (c.954delC) resulting in a frameshift and premature termination (Ser319LeufsTer27; <a href="#0005">603539.0005</a>). Neither variant was present in 2 large control databases, but the Y231C substitution was found in heterozygous state in 1 (0.012%) of 4,295 Americans of European ancestry. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23297359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE)</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs753084727 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs753084727;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/rs753084727?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=rs753084727" 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=rs753084727" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000054494" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054494" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054494</a>
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<p>For discussion of the 1-bp deletion in the CTSF gene (c.954delC) that was found in compound heterozygous state in a patient with adult-onset neuronal ceroid lipofuscinosis-13 (CLN13; <a href="/entry/615362">615362</a>) by <a href="#4" class="mim-tip-reference" title="Smith, K. R., Dahl, H.-H. M., Canafoglia, L., Andermann, E., Damiano, J., Morbin, M., Bruni, A. C., Giaccone, G., Cossette, P., Saftig, P., Grotzinger, J., Schwake, M., and 11 others. <strong>Cathepsin F mutations cause type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.</strong> Hum. Molec. Genet. 22: 1417-1423, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23297359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23297359</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23297359[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/10.1093/hmg/dds558" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23297359">Smith et al. (2013)</a>, see <a href="#0004">603539.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23297359" 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="0006" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0006 CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE)</strong>
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CTSF, IVS1DS, G-C, +1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs797045136 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797045136;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs797045136" 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=rs797045136" 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=RCV000190878" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000190878" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000190878</a>
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<p>In 3 members of an Italian family with adult-onset neuronal ceroid lipofuscinosis-13 (CLN13; <a href="/entry/615362">615362</a>), <a href="#1" class="mim-tip-reference" title="Di Fabio, R., Moro, F., Pestillo, L., Meschini, M. C., Pezzini, F., Doccini, S., Casali, C., Pierelli, F., Simonati, A., Santorelli, F. M. <strong>Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease.</strong> Neurology 83: 1769-1770, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25274848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25274848</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25274848">Di Fabio et al. (2014)</a> identified a homozygous G-to-C transversion (c.213+1G-C, NM_003793.3) in intron 1 of the CTSF gene, resulting in the removal of exon 1. The mutation segregated with the disorder in the family and was not found in the dbSNP, 1000 Genomes Project, or Exome Sequencing Project databases, or in 150 ethnically matched controls. Patient-derived fibroblasts showed a stable mutant mRNA transcript lacking exon 1. The mutation was predicted to truncate the N-terminus of cathepsin F and to result in loss of function; additional functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25274848" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>REFERENCES</strong>
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Di Fabio, R., Moro, F., Pestillo, L., Meschini, M. C., Pezzini, F., Doccini, S., Casali, C., Pierelli, F., Simonati, A., Santorelli, F. M.
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<strong>Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease.</strong>
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Neurology 83: 1769-1770, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25274848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25274848</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25274848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/WNL.0000000000000953" target="_blank">Full Text</a>]
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Nagler, D. K., Sulea, T., Menard, R.
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<strong>Full-length cDNA of human cathepsin F predicts the presence of a cystatin domain at the N-terminus of the cysteine protease zymogen.</strong>
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Biochem. Biophys. Res. Commun. 257: 313-318, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10198209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10198209</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10198209" 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/10.1006/bbrc.1999.0461" target="_blank">Full Text</a>]
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Santamaria, I., Velasco, G., Pendas, A. M., Paz, A., Lopez-Otin, C.
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<strong>Molecular cloning and structural and functional characterization of human cathepsin F, a new cysteine proteinase of the papain family with a long propeptide domain.</strong>
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J. Biol. Chem. 274: 13800-13809, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10318784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10318784</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10318784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.274.20.13800" target="_blank">Full Text</a>]
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<a id="Smith2013" class="mim-anchor"></a>
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Smith, K. R., Dahl, H.-H. M., Canafoglia, L., Andermann, E., Damiano, J., Morbin, M., Bruni, A. C., Giaccone, G., Cossette, P., Saftig, P., Grotzinger, J., Schwake, M., and 11 others.
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<strong>Cathepsin F mutations cause type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.</strong>
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Hum. Molec. Genet. 22: 1417-1423, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23297359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23297359</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23297359[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=23297359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/dds558" target="_blank">Full Text</a>]
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Tang, C.-H., Lee, J.-W., Galvez, M. G., Robillard, L., Mole, S. E., Chapman, H. A.
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<strong>Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease.</strong>
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Molec. Cell. Biol. 26: 2309-2316, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16508006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16508006</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16508006[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=16508006" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/MCB.26.6.2309-2316.2006" target="_blank">Full Text</a>]
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<a id="Wang1998" class="mim-anchor"></a>
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Wang, B., Shi, G.-P., Yao, P. M., Li, Z., Chapman, H. A., Bromme, D.
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<strong>Human cathepsin F: molecular cloning, functional expression, tissue localization, and enzymatic characterization.</strong>
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J. Biol. Chem. 273: 32000-32008, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9822672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9822672</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9822672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.273.48.32000" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 9/8/2015
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/8/2013<br>Cassandra L. Kniffin - updated : 11/15/2012<br>Patti M. Sherman - updated : 11/16/1999
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Rebekah S. Rasooly : 2/16/1999
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/27/2021
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<span class="mim-text-font">
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alopez : 09/15/2015<br>ckniffin : 9/8/2015<br>carol : 6/29/2015<br>mcolton : 6/16/2015<br>carol : 9/13/2013<br>carol : 8/14/2013<br>ckniffin : 8/8/2013<br>carol : 12/5/2012<br>terry : 12/5/2012<br>ckniffin : 11/15/2012<br>carol : 1/16/2009<br>carol : 1/15/2009<br>mgross : 11/22/1999<br>mgross : 11/19/1999<br>psherman : 11/16/1999<br>psherman : 2/16/1999
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603539
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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CATHEPSIN F; CTSF
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</h3>
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</div>
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<br />
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CTSF</em></strong>
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</span>
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</p>
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<strong>
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<em>
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Cytogenetic location: 11q13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:66,563,464-66,568,606 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<th>
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Location
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</th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<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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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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11q13.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Ceroid lipofuscinosis, neuronal, 13 (Kufs type)
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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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615362
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Cathepsin F (EC 3.4.22.41) is a member of the papain family of cysteine proteases. These enzymes represent a major component of the lysosomal proteolytic system. They are synthesized as inactive precursors consisting of a signal sequence, a propeptide, and a catalytically active mature region. Cathepsins are routed to the endosomal/lysosomal compartment via the mannose 6-phosphate receptor pathway. Activation of the proenzyme usually occurs following cleavage and dissociation of the N-terminal proregion, which constitutes a regulatory element of the enzyme's proteolytic activity. Peptides corresponding to the proregions of cysteine proteases are potent, selective inhibitors of the parent enzymes (review by Nagler et al., 1999). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By PCR of a human alveolar lung macrophage cDNA library using degenerate primers based on conserved regions of papain superfamily members, Wang et al. (1998) isolated a partial cathepsin F cDNA. Using several methods, they cloned additional cathepsin F cDNAs, including a skeletal muscle cDNA that they stated contains the entire coding region. Sequence analysis revealed that the 302-amino acid cathepsin F protein predicted from their skeletal muscle cDNA has a prodomain and a mature region but lacks a signal sequence. Transient expression of an epitope-tagged cathepsin F in mammalian cells revealed a vesicular distribution of the protein in the juxtanuclear region of the cells, a typical pattern for lysosomes. Based on these results, Wang et al. (1998) suggested that cathepsin F is targeted to the lysosomal compartment via a signal peptide-independent lysosomal targeting pathway. (Santamaria et al. (1999) and Nagler et al. (1999) later found that the cDNA cloned by Wang et al. (1998) is a partial cathepsin F cDNA lacking 5-prime coding sequence. They showed that cathepsin F does contain a signal peptide and suggested that cathepsin F is targeted to the lysosomal compartment by the mannose 6-phosphate receptor pathway.) The cathepsin F protein shares 42% sequence identity with cathepsin W (602364). Recombinant mature cathepsin F was highly active, with specific activities toward synthetic substrates comparable to those reported for cathepsin L (116880), which was the most catalytically active lysosomal cysteine protease known. Northern blot analysis demonstrated that the cathepsin F gene is ubiquitously expressed. </p><p>By searching an EST database for sequences with significant similarity to members of the papain family of cysteine proteases, Santamaria et al. (1999) identified several overlapping ESTs encoding cathepsin F. Using a probe derived from these ESTs, they screened a human prostate cDNA library and isolated a full-length cathepsin F cDNA. The predicted 484-amino acid protein has the same domain organization as other cysteine proteases, including a signal sequence, a propeptide, and a catalytic region. However, compared to the propeptide domains of other papain family proteases, the cathepsin F propeptide domain is unusually long, consisting of 251 residues. Cathepsin F also has all the structural motifs of cysteine proteases, including the essential cysteine residue of the active site. The authors suggested that at least 1 of the protein's 5 potential glycosylation sites is effectively glycosylated and has attached the mannose 6-phosphate marker required for lysosomal targeting. The human cathepsin F protein is 72% identical to mouse cathepsin F and 37% identical to human cathepsin L2 (603308). Northern blot analysis detected an approximately 2.1-kb cathepsin F transcript in most normal human tissues, with the highest expression in skeletal muscle and testis. This transcript was also found in several cancer cell lines. Santamaria et al. (1999) stated that the cathepsin F cDNA isolated by them is identical to the cathepsin F cDNA reported by Wang et al. (1998) in the 3-prime region but contains an extended open reading frame at the 5-prime end that encodes more than 180 amino acids, including a signal peptide. </p><p>Nagler et al. (1999) searched an EST database for novel cysteine proteases and identified a human cathepsin F EST. Using PCR, they amplified the full-length cathepsin F coding sequence from a human ovary cDNA library. Since the deduced 484-amino acid cathepsin F protein has a signal sequence and potential glycosylation sites, the authors suggested that cathepsin F is targeted to the endosomal/lysosomal compartment via the mannose 6-phosphate receptor pathway. The mature region of the cathepsin F protein is 26 to 42% identical to other mature human cathepsins, whereas its proregion is unique in both its length and sequence. The very long proregion can be divided into 3 regions: an N-terminal domain with a cystatin-like fold, an approximately 50-residue flexible linker peptide, and a C-terminal domain that is similar to the proregion of cathepsin L-like enzymes. Cathepsin F is the first cysteine protease zymogen identified that contains a cystatin-like domain. Cystatins (see 603253) are reversible tight-binding inhibitors of lysosomal cysteine proteases and are believed to regulate proteolytic activity in vivo. The cystatin-like domain of cathepsin F contains some of the elements known to be important for inhibitory activity. Nagler et al. (1999) noted that the cathepsin F cDNA reported by Wang et al. (1998) lacks the 5-prime untranslated region and 226 bp of coding sequence, including the initiating ATG codon and the nucleotides encoding the signal peptide. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>By FISH and analysis of somatic cell hybrids, Santamaria et al. (1999) mapped the CTSF gene to 11q13, the same region where the cathepsin W gene is located. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of 2 unrelated families with autosomal recessive Kufs-type neuronal ceroid lipofuscinosis (CLN13; 615362), Smith et al. (2013) identified homozygous or compound heterozygous mutations in the CTSF gene (603539.0001-603539.0003). The mutations, which were found by linkage analysis combined with exome sequencing, segregated with the disorder and were not found in several large control databases. Sequencing of the CTSF gene in 22 unrelated probands with suspected Kufs disease identified compound heterozygous mutations (603539.0004-603539.0005) in 1 patient. Molecular modeling predicted that the mutations were pathogenic, and Smith et al. (2013) noted that Ctsf-null mice develop a similar neurodegenerative disorder (Tang et al., 2006). The findings implicated CTSF dysfunction in this disorder, which was characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. </p><p>In affected members of an Italian family with CLN13, Di Fabio et al. (2014) identified a homozygous splice site mutation in the CTSF gene (603539.0006). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>Tang et al. (2006) found high expression of the Ctsf gene in murine adrenal gland, liver, kidney, testis, and ovary, with lower expression in the heart and uterus. Expression was also found in lysosomes within cells of the brain and spinal cord. Ctsf-null mice developed normally, but had onset of a progressive neurologic disorder between 12 and 16 months of age. Mutant mice showed progressive difficulty walking, with hind leg weakness, decline in motor coordination, and general wasting. Other features included tonic hind leg extension, poor balance, tremor, and spasticity. Some mice had seizures. Ctsf-null mice died within 4 to 6 months of symptom onset. Postmortem examination showed substantial gliosis in the brain and spinal cord, neuronal loss, and an accumulation of cytoplasmic eosinophilic and autofluorescent granules in neurons and glial cells. Ultrastructural analysis confirmed membrane-bound lamellar inclusions in fingerprint patterns, consistent with lipofuscin. The phenotype was reminiscent of human adult-onset neuronal ceroid lipofuscinosis (see, e.g., CLN4A, 204300), but no CTSF mutations were identified in 13 unrelated patients with that disorder. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0001 CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE)</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CTSF, GLN321ARG
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<br />
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SNP: rs397514731,
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ClinVar: RCV000054490
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a French Canadian woman, born of consanguineous parents, with adult-onset neuronal ceroid lipofuscinosis-13 (CLN13; 615362), Smith et al. (2013) identified a homozygous c.962A-G transition in exon 7 of the CTSF gene, resulting in a gln321-to-arg (Q321R) substitution at a highly conserved residue in the peptidase C1 domain towards the C-terminal end. The mutation, which was found by linkage analysis combined with exome sequencing and confirmed by Sanger sequencing, was not found in several large control databases and segregated with the disorder in the family. Molecular modeling predicted that the Q321R substitution would result in a conformational change in the binding loop that would lower catalytic efficiency. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0002 CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CTSF, GLY458ALA
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<br />
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SNP: rs397514732,
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gnomAD: rs397514732,
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ClinVar: RCV000054491
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 Italian sibs with adult-onset neuronal ceroid lipofuscinosis-13 (CLN13; 615362), Smith et al. (2013) identified compound heterozygous mutations in the CTSF gene: a c.1373G-C transversion in exon 12 resulting in a gly458-to-ala (G458A) substitution, and a c.1439C-T transition in exon 13 resulting in a ser480-to-leu (S480L; 603539.0003) substitution. The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and were not found in several large control databases. Both mutations occurred at highly conserved residues in the peptidase C1 domain towards the C-terminal end. Molecular modeling predicted that each mutation would lead to a conformational change or protein misfolding. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CTSF, SER480LEU
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<br />
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SNP: rs397514733,
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gnomAD: rs397514733,
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ClinVar: RCV000054492
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the ser480-to-leu (S480L) mutation in the CTSF gene that was found in compound heterozygous state in patients with adult-onset neuronal ceroid lipofuscinosis-13 (CLN13; 615362) by Smith et al. (2013), see 603539.0002. </p>
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</span>
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</div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CTSF, TYR231CYS ({dbSNP rs143889283})
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<br />
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SNP: rs143889283,
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gnomAD: rs143889283,
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ClinVar: RCV000054493, RCV003415822
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 41-year-old Australian woman with adult-onset neuronal ceroid lipofuscinosis-13 (CLN13; 615362), Smith et al. (2013) identified compound heterozygous mutations in the CTSF gene: a c.962A-G transition in exon 5 resulting in a tyr231-to-cys (Y231C; rs143889283) substitution at a highly conserved residue in the 129 propeptide inhibitor domain, and a 1-bp deletion in exon 7 (c.954delC) resulting in a frameshift and premature termination (Ser319LeufsTer27; 603539.0005). Neither variant was present in 2 large control databases, but the Y231C substitution was found in heterozygous state in 1 (0.012%) of 4,295 Americans of European ancestry. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CTSF, 1-BP DEL, 954C
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<br />
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SNP: rs753084727,
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gnomAD: rs753084727,
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ClinVar: RCV000054494
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the 1-bp deletion in the CTSF gene (c.954delC) that was found in compound heterozygous state in a patient with adult-onset neuronal ceroid lipofuscinosis-13 (CLN13; 615362) by Smith et al. (2013), see 603539.0004. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE)</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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CTSF, IVS1DS, G-C, +1
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<br />
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SNP: rs797045136,
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ClinVar: RCV000190878
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 members of an Italian family with adult-onset neuronal ceroid lipofuscinosis-13 (CLN13; 615362), Di Fabio et al. (2014) identified a homozygous G-to-C transversion (c.213+1G-C, NM_003793.3) in intron 1 of the CTSF gene, resulting in the removal of exon 1. The mutation segregated with the disorder in the family and was not found in the dbSNP, 1000 Genomes Project, or Exome Sequencing Project databases, or in 150 ethnically matched controls. Patient-derived fibroblasts showed a stable mutant mRNA transcript lacking exon 1. The mutation was predicted to truncate the N-terminus of cathepsin F and to result in loss of function; additional functional studies were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Di Fabio, R., Moro, F., Pestillo, L., Meschini, M. C., Pezzini, F., Doccini, S., Casali, C., Pierelli, F., Simonati, A., Santorelli, F. M.
|
|
<strong>Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease.</strong>
|
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Neurology 83: 1769-1770, 2014.
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[PubMed: 25274848]
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[Full Text: https://doi.org/10.1212/WNL.0000000000000953]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Nagler, D. K., Sulea, T., Menard, R.
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<strong>Full-length cDNA of human cathepsin F predicts the presence of a cystatin domain at the N-terminus of the cysteine protease zymogen.</strong>
|
|
Biochem. Biophys. Res. Commun. 257: 313-318, 1999.
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[PubMed: 10198209]
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[Full Text: https://doi.org/10.1006/bbrc.1999.0461]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Santamaria, I., Velasco, G., Pendas, A. M., Paz, A., Lopez-Otin, C.
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|
<strong>Molecular cloning and structural and functional characterization of human cathepsin F, a new cysteine proteinase of the papain family with a long propeptide domain.</strong>
|
|
J. Biol. Chem. 274: 13800-13809, 1999.
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[PubMed: 10318784]
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[Full Text: https://doi.org/10.1074/jbc.274.20.13800]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Smith, K. R., Dahl, H.-H. M., Canafoglia, L., Andermann, E., Damiano, J., Morbin, M., Bruni, A. C., Giaccone, G., Cossette, P., Saftig, P., Grotzinger, J., Schwake, M., and 11 others.
|
|
<strong>Cathepsin F mutations cause type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.</strong>
|
|
Hum. Molec. Genet. 22: 1417-1423, 2013.
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|
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[PubMed: 23297359]
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[Full Text: https://doi.org/10.1093/hmg/dds558]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Tang, C.-H., Lee, J.-W., Galvez, M. G., Robillard, L., Mole, S. E., Chapman, H. A.
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<strong>Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease.</strong>
|
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Molec. Cell. Biol. 26: 2309-2316, 2006.
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[PubMed: 16508006]
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[Full Text: https://doi.org/10.1128/MCB.26.6.2309-2316.2006]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Wang, B., Shi, G.-P., Yao, P. M., Li, Z., Chapman, H. A., Bromme, D.
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|
<strong>Human cathepsin F: molecular cloning, functional expression, tissue localization, and enzymatic characterization.</strong>
|
|
J. Biol. Chem. 273: 32000-32008, 1998.
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[PubMed: 9822672]
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[Full Text: https://doi.org/10.1074/jbc.273.48.32000]
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</p>
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</li>
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</ol>
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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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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 9/8/2015<br>Cassandra L. Kniffin - updated : 8/8/2013<br>Cassandra L. Kniffin - updated : 11/15/2012<br>Patti M. Sherman - updated : 11/16/1999
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Rebekah S. Rasooly : 2/16/1999
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carol : 07/27/2021<br>alopez : 09/15/2015<br>ckniffin : 9/8/2015<br>carol : 6/29/2015<br>mcolton : 6/16/2015<br>carol : 9/13/2013<br>carol : 8/14/2013<br>ckniffin : 8/8/2013<br>carol : 12/5/2012<br>terry : 12/5/2012<br>ckniffin : 11/15/2012<br>carol : 1/16/2009<br>carol : 1/15/2009<br>mgross : 11/22/1999<br>mgross : 11/19/1999<br>psherman : 11/16/1999<br>psherman : 2/16/1999
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