2940 lines
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2940 lines
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Entry
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- *184420 - FARNESYLDIPHOSPHATE FARNESYLTRANSFERASE 1; FDFT1
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- OMIM
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<p>
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<span class="h4">*184420</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/184420">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel 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=ENSG00000079459;t=ENST00000220584" 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=2222" 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=184420" 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 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=ENSG00000079459;t=ENST00000220584" 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_001287742,NM_001287743,NM_001287744,NM_001287745,NM_001287747,NM_001287748,NM_001287749,NM_001287750,NM_001287751,NM_001287756,NM_004462" 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_004462" 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=184420" 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=01694&isoform_id=01694_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/FDFT1" 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/292510,307432,435677,585126,913349,13097747,14328083,20988196,30582247,48146183,67089147,119586032,119586033,193786634,194377082,194382104,194388454,194390212,194390506,221039532,221040242,221040248,221045374,221045454,221045752,221046090,567757574,567757576,567757579,567757581,567757583,567757585,567757587,567757589,567757591,567757597" 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/P37268" 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=2222" 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=ENSG00000079459;t=ENST00000220584" 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=FDFT1" 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=FDFT1" 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+2222" 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/FDFT1" 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:2222" 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/2222" 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=chr8&hgg_gene=ENST00000220584.9&hgg_start=11795582&hgg_end=11839298&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=184420[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=184420[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/ENSG00000079459" 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=FDFT1" 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=FDFT1" 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=FDFT1" 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=FDFT1&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/PA28073" 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:3629" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:102706" 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/FDFT1#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:102706" 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/2222/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=2222" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-081104-242" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2222" 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=FDFT1&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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184420
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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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FARNESYLDIPHOSPHATE FARNESYLTRANSFERASE 1; FDFT1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
SQUALENE SYNTHASE
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=FDFT1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">FDFT1</a></em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/8/59?start=-3&limit=10&highlight=59">8p23.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr8:11795582-11839298&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'})">8:11,795,582-11,839,298</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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|
Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/8/59?start=-3&limit=10&highlight=59">
|
|
8p23.1
|
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</a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Squalene synthase deficiency
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/618156"> 618156 </a>
|
|
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/184420" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/184420" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
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</h4>
|
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<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>Farnesyldiphosphate farnesyltransferase (<a href="https://enzyme.expasy.org/EC/2.5.1.21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.5.1.21</a>), or squalene synthase, catalyzes the conversion of trans-farnesyldiphosphate to squalene, the first specific step in the cholesterol biosynthetic pathway (<a href="#7" class="mim-tip-reference" title="Shechter, I., Conrad, D. G., Hart, I., Berger, R. C., McKenzie, T. L., Bleskan, J., Patterson, D. <strong>Localization of the squalene synthase gene (FDFT1) to human chromosome 8p22-p23.1.</strong> Genomics 20: 116-118, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8020937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8020937</a>] [<a href="https://doi.org/10.1006/geno.1994.1135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8020937">Shechter et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8020937" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Jiang, G., McKenzie, T. L., Conrad, D. G., Shechter, I. <strong>Transcriptional regulation by lovastatin and 25-hydroxycholesterol in HepG2 cells and molecular cloning and expression of the cDNA for the human hepatic squalene synthase.</strong> J. Biol. Chem. 268: 12818-12824, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7685352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7685352</a>]" pmid="7685352">Jiang et al. (1993)</a> isolated a cDNA encoding human squalene synthase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7685352" 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="#3" class="mim-tip-reference" title="Guan, G., Jiang, G., Koch, R. L., Shechter, I. <strong>Molecular cloning and functional analysis of the promoter of the human squalene synthase gene.</strong> J. Biol. Chem. 270: 21958-21965, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7665618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7665618</a>] [<a href="https://doi.org/10.1074/jbc.270.37.21958" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7665618">Guan et al. (1995)</a> cloned and characterized the promoter of the FDFT1 gene. A 69-bp sequence positioned 131 bp 5-prime to the transcription start site conferred transcriptional competence and sterol regulation. Sequence analysis of this region showed that it contains a sterol regulatory element-1 (SRE1) previously identified in other sterol-regulated genes and 2 potential NF1-binding sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7665618" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Coman, D., Vissers, L. E. L. M., Riley, L. G., Kwint, M. P., Hauck, R., Koster, J., Geuer, S., Hopkins, S., Hallinan, B., Sweetman, L., Engelke, U. F. H., Burrow, T. A., Cardinal, J., McGill, J., Inwood, A., Gurnsey, C., Waterham, H. R., Christodoulou, J., Wevers, R. A., Pitt, J. <strong>Squalene synthase deficiency: clinical, biochemical, and molecular characterization of a defect in cholesterol biosynthesis.</strong> Am. J. Hum. Genet. 103: 125-130, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29909962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29909962</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29909962">Coman et al. (2018)</a> reported that the FDFT1 gene contains 10 exons producing 11 different isoforms that encode 5 different proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29909962" 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>To map the FDFT1 gene, <a href="#7" class="mim-tip-reference" title="Shechter, I., Conrad, D. G., Hart, I., Berger, R. C., McKenzie, T. L., Bleskan, J., Patterson, D. <strong>Localization of the squalene synthase gene (FDFT1) to human chromosome 8p22-p23.1.</strong> Genomics 20: 116-118, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8020937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8020937</a>] [<a href="https://doi.org/10.1006/geno.1994.1135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8020937">Shechter et al. (1994)</a> first isolated a yeast artificial chromosome (YAC) containing the FDFT1 gene. They then used fluorescence in situ hybridization with the YAC to map the gene to chromosome 8. Assignment to chromosome 8 was confirmed by PCR analysis of a somatic cell hybrid containing human chromosome 8. Use of a somatic cell hybrid regional mapping panel dividing chromosome 8 into several fragments localized the gene to chromosome 8pter-p21. Fractional length analysis of the FISH mapping placed the signal generated with this YAC at chromosome 8p23.1-p22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8020937" 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="#2" class="mim-tip-reference" title="Do, R., Kiss, R. S., Gaudet, D., Engert, J. C. <strong>Squalene synthase: a critical enzyme in the cholesterol biosynthesis pathway.</strong> Clin. Genet. 75: 19-29, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19054015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19054015</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2008.01099.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19054015">Do et al. (2009)</a> reviewed the role of squalene synthase in cholesterol biosynthesis, including regulation of cellular and plasma cholesterol levels, noting that it is responsible for the flow of metabolites into either the sterol or nonsterol branch of the pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19054015" 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 study of the breakpoint at 8p23.1 associated with the inversion 8 chromosome found in at least 1 parent of all Rec(8) syndrome (<a href="/entry/179613">179613</a>) individuals, <a href="#6" class="mim-tip-reference" title="Patterson, D., Sujansky, E., Hart, I., Bleskan, J., Walton, K., Giang, J., Shechter, I. <strong>Recombinant 8 syndrome breakpoint analysis. (Abstract)</strong> Am. J. Hum. Genet. 57: A91 only, 1995."None>Patterson et al. (1995)</a> found that the clones contained at least the 5-prime coding region of the FDFT1 gene, which they referred to as DGPT.</p>
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<p>By positional cloning and genotyping in Shumiya cataract rats, <a href="#5" class="mim-tip-reference" title="Mori, M., Li, G., Abe, I., Nakayama, J., Guo, Z., Sawashita, J., Ugawa, T., Nishizono, S., Serikawa, T., Higuchi, K., Shumiya, S. <strong>Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat.</strong> J. Clin. Invest. 116: 395-404, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16440058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16440058</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16440058[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/10.1172/JCI20797" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16440058">Mori et al. (2006)</a> identified hypomorphic mutations in the Lss gene (<a href="/entry/600909">600909</a>) and the Fdft1 gene, as well as a null mutation in Lss. Cataract onset was associated with the specific combination of Lss and Fdft1 mutant alleles that decreased cholesterol levels in cataractous lenses to about 57% of normal. <a href="#5" class="mim-tip-reference" title="Mori, M., Li, G., Abe, I., Nakayama, J., Guo, Z., Sawashita, J., Ugawa, T., Nishizono, S., Serikawa, T., Higuchi, K., Shumiya, S. <strong>Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat.</strong> J. Clin. Invest. 116: 395-404, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16440058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16440058</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16440058[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/10.1172/JCI20797" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16440058">Mori et al. (2006)</a> concluded that cholesterol insufficiency may cause the deficient proliferation of lens epithelial cells in Shumiya cataract rats, resulting in the loss of homeostatic epithelial cell control of the underlying fiber cells and ultimately cataractogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16440058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Coman, D., Vissers, L. E. L. M., Riley, L. G., Kwint, M. P., Hauck, R., Koster, J., Geuer, S., Hopkins, S., Hallinan, B., Sweetman, L., Engelke, U. F. H., Burrow, T. A., Cardinal, J., McGill, J., Inwood, A., Gurnsey, C., Waterham, H. R., Christodoulou, J., Wevers, R. A., Pitt, J. <strong>Squalene synthase deficiency: clinical, biochemical, and molecular characterization of a defect in cholesterol biosynthesis.</strong> Am. J. Hum. Genet. 103: 125-130, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29909962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29909962</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29909962">Coman et al. (2018)</a> reported 3 children with squalene synthase deficiency (SQSD; <a href="/entry/618156">618156</a>) from 2 families with homozygous or compound heterozygous mutations in the FDFT1 gene (<a href="#0001">184420.0001</a>-<a href="#0003">184420.0003</a>). The clinical phenotype resembled that of other cholesterol biosynthesis defects (e.g., Smith-Lemi-Opitz syndrome, <a href="/entry/270400">270400</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29909962" 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 sibs with squalene synthase deficiency (SQSD; <a href="/entry/618156">618156</a>), <a href="#1" class="mim-tip-reference" title="Coman, D., Vissers, L. E. L. M., Riley, L. G., Kwint, M. P., Hauck, R., Koster, J., Geuer, S., Hopkins, S., Hallinan, B., Sweetman, L., Engelke, U. F. H., Burrow, T. A., Cardinal, J., McGill, J., Inwood, A., Gurnsey, C., Waterham, H. R., Christodoulou, J., Wevers, R. A., Pitt, J. <strong>Squalene synthase deficiency: clinical, biochemical, and molecular characterization of a defect in cholesterol biosynthesis.</strong> Am. J. Hum. Genet. 103: 125-130, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29909962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29909962</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29909962">Coman et al. (2018)</a> identified compound heterozygosity for mutations in the FDFT1 gene. The maternal allele carried a 120-kb deletion (chr8.11667760-11787743, GRCh37) encompassing exons 6 through 10 of the FDFT1 gene and all of the cathepsin B gene (CTSB; <a href="/entry/116810">116810</a>). The paternal allele carried a TC deletion/AG insertion in intron 8 (<a href="#0002">184420.0002</a>) that created a novel splice acceptor site and resulted in the retention of 22 bp of intron 8 sequence. Western blot analysis showed marked reduction in FDFT1 protein in patient-derived lymphoblasts and fibroblasts; there was even more dramatic reduction in fibroblasts grown in lipid-free media. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29909962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1563339323 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1563339323;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=rs1563339323" 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=rs1563339323" 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=RCV000714474" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000714474" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000714474</a>
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<p>For discussion of the TC deletion/AG insertion in intron 8 of the FDFT1 gene (c.880-24_880-23delinsAG, NM_001287742.1) that was found in compound heterozygous state in 2 sibs with squalene synthase deficiency (SQSD; <a href="/entry/618156">618156</a>) by <a href="#1" class="mim-tip-reference" title="Coman, D., Vissers, L. E. L. M., Riley, L. G., Kwint, M. P., Hauck, R., Koster, J., Geuer, S., Hopkins, S., Hallinan, B., Sweetman, L., Engelke, U. F. H., Burrow, T. A., Cardinal, J., McGill, J., Inwood, A., Gurnsey, C., Waterham, H. R., Christodoulou, J., Wevers, R. A., Pitt, J. <strong>Squalene synthase deficiency: clinical, biochemical, and molecular characterization of a defect in cholesterol biosynthesis.</strong> Am. J. Hum. Genet. 103: 125-130, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29909962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29909962</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29909962">Coman et al. (2018)</a>, see <a href="#0001">184420.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29909962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1563290033 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1563290033;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=rs1563290033" 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=rs1563290033" 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=RCV000714475" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000714475" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000714475</a>
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<p>In a patient born of a nonconsanguineous union with squalene synthase deficiency (SQSD; <a href="/entry/618156">618156</a>), <a href="#1" class="mim-tip-reference" title="Coman, D., Vissers, L. E. L. M., Riley, L. G., Kwint, M. P., Hauck, R., Koster, J., Geuer, S., Hopkins, S., Hallinan, B., Sweetman, L., Engelke, U. F. H., Burrow, T. A., Cardinal, J., McGill, J., Inwood, A., Gurnsey, C., Waterham, H. R., Christodoulou, J., Wevers, R. A., Pitt, J. <strong>Squalene synthase deficiency: clinical, biochemical, and molecular characterization of a defect in cholesterol biosynthesis.</strong> Am. J. Hum. Genet. 103: 125-130, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29909962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29909962</a>] [<a href="https://doi.org/10.1016/j.ajhg.2018.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29909962">Coman et al. (2018)</a> identified homozygosity for a 16-bp deep intronic deletion (chr8.11660095_11660110del, GRCh37). This deletion was detected by whole-exome sequencing and confirmed by Sanger sequencing, and was inherited from both parents. The mutation was not present in the gnomAD database or among more than 15,000 in-house exomes. Three of the 11 isoforms of FDFT1 (NM_001287742.1, NM_001287743.1, and NM_00128774.4) were undetected in a patient-derived fibroblast cell line. The absent isoforms are normally detected in fetal and adult skeletal muscle and in adult brain, spleen, testis, lung, and kidney. Addition of cycloheximide failed to result in isoform detection, suggesting that the absence of these isoforms was due to abnormal regulation rather than erroneous splicing degraded by nonsense-mediated decay. Luciferase assay showed significantly reduced promoter activity from a fragment carrying the deletion compared to a wildtype fragment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29909962" 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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Coman, D., Vissers, L. E. L. M., Riley, L. G., Kwint, M. P., Hauck, R., Koster, J., Geuer, S., Hopkins, S., Hallinan, B., Sweetman, L., Engelke, U. F. H., Burrow, T. A., Cardinal, J., McGill, J., Inwood, A., Gurnsey, C., Waterham, H. R., Christodoulou, J., Wevers, R. A., Pitt, J.
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<strong>Squalene synthase deficiency: clinical, biochemical, and molecular characterization of a defect in cholesterol biosynthesis.</strong>
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Am. J. Hum. Genet. 103: 125-130, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29909962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29909962</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29909962" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2018.05.004" target="_blank">Full Text</a>]
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Do, R., Kiss, R. S., Gaudet, D., Engert, J. C.
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<strong>Squalene synthase: a critical enzyme in the cholesterol biosynthesis pathway.</strong>
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Clin. Genet. 75: 19-29, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19054015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19054015</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19054015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2008.01099.x" target="_blank">Full Text</a>]
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Guan, G., Jiang, G., Koch, R. L., Shechter, I.
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<strong>Molecular cloning and functional analysis of the promoter of the human squalene synthase gene.</strong>
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J. Biol. Chem. 270: 21958-21965, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7665618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7665618</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7665618" 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.270.37.21958" target="_blank">Full Text</a>]
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Jiang, G., McKenzie, T. L., Conrad, D. G., Shechter, I.
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<strong>Transcriptional regulation by lovastatin and 25-hydroxycholesterol in HepG2 cells and molecular cloning and expression of the cDNA for the human hepatic squalene synthase.</strong>
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J. Biol. Chem. 268: 12818-12824, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7685352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7685352</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7685352" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Mori, M., Li, G., Abe, I., Nakayama, J., Guo, Z., Sawashita, J., Ugawa, T., Nishizono, S., Serikawa, T., Higuchi, K., Shumiya, S.
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<strong>Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat.</strong>
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J. Clin. Invest. 116: 395-404, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16440058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16440058</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16440058[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=16440058" 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/10.1172/JCI20797" target="_blank">Full Text</a>]
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Patterson, D., Sujansky, E., Hart, I., Bleskan, J., Walton, K., Giang, J., Shechter, I.
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<strong>Recombinant 8 syndrome breakpoint analysis. (Abstract)</strong>
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Am. J. Hum. Genet. 57: A91 only, 1995.
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Shechter, I., Conrad, D. G., Hart, I., Berger, R. C., McKenzie, T. L., Bleskan, J., Patterson, D.
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<strong>Localization of the squalene synthase gene (FDFT1) to human chromosome 8p22-p23.1.</strong>
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Genomics 20: 116-118, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8020937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8020937</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8020937" 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/geno.1994.1135" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 10/25/2018
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Marla J. F. O'Neill - updated : 2/20/2009<br>Marla J. F. O'Neill - updated : 7/10/2006
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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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Victor A. McKusick : 4/5/1994
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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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alopez : 10/25/2018
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/31/2016<br>wwang : 02/24/2009<br>terry : 2/20/2009<br>mgross : 8/20/2008<br>wwang : 7/11/2006<br>terry : 7/10/2006<br>carol : 8/19/1998<br>alopez : 7/29/1997<br>terry : 7/7/1997<br>terry : 7/7/1997<br>mark : 11/27/1996<br>terry : 11/2/1995<br>carol : 4/5/1994
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</span>
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</div>
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 184420
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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FARNESYLDIPHOSPHATE FARNESYLTRANSFERASE 1; FDFT1
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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SQUALENE SYNTHASE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: FDFT1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 8p23.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 8:11,795,582-11,839,298 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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8p23.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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Squalene synthase deficiency
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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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618156
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Farnesyldiphosphate farnesyltransferase (EC 2.5.1.21), or squalene synthase, catalyzes the conversion of trans-farnesyldiphosphate to squalene, the first specific step in the cholesterol biosynthetic pathway (Shechter et al., 1994). </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>Jiang et al. (1993) isolated a cDNA encoding human squalene synthase. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Guan et al. (1995) cloned and characterized the promoter of the FDFT1 gene. A 69-bp sequence positioned 131 bp 5-prime to the transcription start site conferred transcriptional competence and sterol regulation. Sequence analysis of this region showed that it contains a sterol regulatory element-1 (SRE1) previously identified in other sterol-regulated genes and 2 potential NF1-binding sites. </p><p>Coman et al. (2018) reported that the FDFT1 gene contains 10 exons producing 11 different isoforms that encode 5 different proteins. </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>To map the FDFT1 gene, Shechter et al. (1994) first isolated a yeast artificial chromosome (YAC) containing the FDFT1 gene. They then used fluorescence in situ hybridization with the YAC to map the gene to chromosome 8. Assignment to chromosome 8 was confirmed by PCR analysis of a somatic cell hybrid containing human chromosome 8. Use of a somatic cell hybrid regional mapping panel dividing chromosome 8 into several fragments localized the gene to chromosome 8pter-p21. Fractional length analysis of the FISH mapping placed the signal generated with this YAC at chromosome 8p23.1-p22. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Do et al. (2009) reviewed the role of squalene synthase in cholesterol biosynthesis, including regulation of cellular and plasma cholesterol levels, noting that it is responsible for the flow of metabolites into either the sterol or nonsterol branch of the pathway. </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>Cytogenetics</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 a study of the breakpoint at 8p23.1 associated with the inversion 8 chromosome found in at least 1 parent of all Rec(8) syndrome (179613) individuals, Patterson et al. (1995) found that the clones contained at least the 5-prime coding region of the FDFT1 gene, which they referred to as DGPT.</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>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
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|
<p>By positional cloning and genotyping in Shumiya cataract rats, Mori et al. (2006) identified hypomorphic mutations in the Lss gene (600909) and the Fdft1 gene, as well as a null mutation in Lss. Cataract onset was associated with the specific combination of Lss and Fdft1 mutant alleles that decreased cholesterol levels in cataractous lenses to about 57% of normal. Mori et al. (2006) concluded that cholesterol insufficiency may cause the deficient proliferation of lens epithelial cells in Shumiya cataract rats, resulting in the loss of homeostatic epithelial cell control of the underlying fiber cells and ultimately cataractogenesis. </p>
|
|
</span>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Coman et al. (2018) reported 3 children with squalene synthase deficiency (SQSD; 618156) from 2 families with homozygous or compound heterozygous mutations in the FDFT1 gene (184420.0001-184420.0003). The clinical phenotype resembled that of other cholesterol biosynthesis defects (e.g., Smith-Lemi-Opitz syndrome, 270400). </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>3 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
|
<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 SQUALENE SYNTHASE DEFICIENCY</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
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<div>
|
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<span class="mim-text-font">
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|
|
FDFT1, 120-KB DEL
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|
|
<br />
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|
|
ClinVar: RCV000714473
|
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|
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</span>
|
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</div>
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs with squalene synthase deficiency (SQSD; 618156), Coman et al. (2018) identified compound heterozygosity for mutations in the FDFT1 gene. The maternal allele carried a 120-kb deletion (chr8.11667760-11787743, GRCh37) encompassing exons 6 through 10 of the FDFT1 gene and all of the cathepsin B gene (CTSB; 116810). The paternal allele carried a TC deletion/AG insertion in intron 8 (184420.0002) that created a novel splice acceptor site and resulted in the retention of 22 bp of intron 8 sequence. Western blot analysis showed marked reduction in FDFT1 protein in patient-derived lymphoblasts and fibroblasts; there was even more dramatic reduction in fibroblasts grown in lipid-free media. </p>
|
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</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 SQUALENE SYNTHASE DEFICIENCY</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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FDFT1, TC DEL-AG INS, IVS8
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<br />
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SNP: rs1563339323,
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ClinVar: RCV000714474
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>For discussion of the TC deletion/AG insertion in intron 8 of the FDFT1 gene (c.880-24_880-23delinsAG, NM_001287742.1) that was found in compound heterozygous state in 2 sibs with squalene synthase deficiency (SQSD; 618156) by Coman et al. (2018), see 184420.0001. </p>
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</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0003 SQUALENE SYNTHASE DEFICIENCY</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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FDFT1, 16-BP DEL, IVS2
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<br />
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|
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SNP: rs1563290033,
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ClinVar: RCV000714475
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a patient born of a nonconsanguineous union with squalene synthase deficiency (SQSD; 618156), Coman et al. (2018) identified homozygosity for a 16-bp deep intronic deletion (chr8.11660095_11660110del, GRCh37). This deletion was detected by whole-exome sequencing and confirmed by Sanger sequencing, and was inherited from both parents. The mutation was not present in the gnomAD database or among more than 15,000 in-house exomes. Three of the 11 isoforms of FDFT1 (NM_001287742.1, NM_001287743.1, and NM_00128774.4) were undetected in a patient-derived fibroblast cell line. The absent isoforms are normally detected in fetal and adult skeletal muscle and in adult brain, spleen, testis, lung, and kidney. Addition of cycloheximide failed to result in isoform detection, suggesting that the absence of these isoforms was due to abnormal regulation rather than erroneous splicing degraded by nonsense-mediated decay. Luciferase assay showed significantly reduced promoter activity from a fragment carrying the deletion compared to a wildtype fragment. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
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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">
|
|
Coman, D., Vissers, L. E. L. M., Riley, L. G., Kwint, M. P., Hauck, R., Koster, J., Geuer, S., Hopkins, S., Hallinan, B., Sweetman, L., Engelke, U. F. H., Burrow, T. A., Cardinal, J., McGill, J., Inwood, A., Gurnsey, C., Waterham, H. R., Christodoulou, J., Wevers, R. A., Pitt, J.
|
|
<strong>Squalene synthase deficiency: clinical, biochemical, and molecular characterization of a defect in cholesterol biosynthesis.</strong>
|
|
Am. J. Hum. Genet. 103: 125-130, 2018.
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|
|
[PubMed: 29909962]
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[Full Text: https://doi.org/10.1016/j.ajhg.2018.05.004]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Do, R., Kiss, R. S., Gaudet, D., Engert, J. C.
|
|
<strong>Squalene synthase: a critical enzyme in the cholesterol biosynthesis pathway.</strong>
|
|
Clin. Genet. 75: 19-29, 2009.
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|
[PubMed: 19054015]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2008.01099.x]
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</p>
|
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</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Guan, G., Jiang, G., Koch, R. L., Shechter, I.
|
|
<strong>Molecular cloning and functional analysis of the promoter of the human squalene synthase gene.</strong>
|
|
J. Biol. Chem. 270: 21958-21965, 1995.
|
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|
|
[PubMed: 7665618]
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[Full Text: https://doi.org/10.1074/jbc.270.37.21958]
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</p>
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Jiang, G., McKenzie, T. L., Conrad, D. G., Shechter, I.
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<strong>Transcriptional regulation by lovastatin and 25-hydroxycholesterol in HepG2 cells and molecular cloning and expression of the cDNA for the human hepatic squalene synthase.</strong>
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Mori, M., Li, G., Abe, I., Nakayama, J., Guo, Z., Sawashita, J., Ugawa, T., Nishizono, S., Serikawa, T., Higuchi, K., Shumiya, S.
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<strong>Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat.</strong>
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[Full Text: https://doi.org/10.1172/JCI20797]
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Patterson, D., Sujansky, E., Hart, I., Bleskan, J., Walton, K., Giang, J., Shechter, I.
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<strong>Recombinant 8 syndrome breakpoint analysis. (Abstract)</strong>
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Am. J. Hum. Genet. 57: A91 only, 1995.
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Shechter, I., Conrad, D. G., Hart, I., Berger, R. C., McKenzie, T. L., Bleskan, J., Patterson, D.
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<strong>Localization of the squalene synthase gene (FDFT1) to human chromosome 8p22-p23.1.</strong>
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Genomics 20: 116-118, 1994.
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[PubMed: 8020937]
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[Full Text: https://doi.org/10.1006/geno.1994.1135]
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Ada Hamosh - updated : 10/25/2018<br>Marla J. F. O'Neill - updated : 2/20/2009<br>Marla J. F. O'Neill - updated : 7/10/2006
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Victor A. McKusick : 4/5/1994
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