3375 lines
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Entry
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- *611570 - FRUCTOSE-1,6-BISPHOSPHATASE 1; FBP1
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- OMIM
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<p>
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<span class="h4">*611570</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="#geneFunction">Gene Function</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="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/611570">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div 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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<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=ENSG00000165140;t=ENST00000375326" 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=2203" 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=611570" 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=ENSG00000165140;t=ENST00000375326" 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_000507,NM_001127628,XM_006717005" 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_000507" 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=611570" 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=01973&isoform_id=01973_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/FBP1" 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/178349,182311,439226,439228,439230,1000078,1200520,1200522,3293553,15277851,16579888,47118011,57165050,62898351,119613023,158257830,159132712,189067566,189083692,259456410,259703569,300590385,300654434,311033495,578817185,2462623372" 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/P09467" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=2203" 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=ENSG00000165140;t=ENST00000375326" 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=FBP1" 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=FBP1" 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+2203" 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/FBP1" 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:2203" 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/2203" 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=chr9&hgg_gene=ENST00000375326.9&hgg_start=94603133&hgg_end=94640263&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3606" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611570[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=611570[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/FBP1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000165140" 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=FBP1" 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=FBP1" 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=FBP1" 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=FBP1&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/PA28018" 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:3606" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0032820.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:95492" 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/FBP1#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:95492" 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/2203/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=2203" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00001404;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-021206-11" 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:2203" 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=FBP1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 28183005<br />
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<strong>ICD10CM:</strong> E74.19<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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611570
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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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FRUCTOSE-1,6-BISPHOSPHATASE 1; FBP1
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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>
|
|
<span class="mim-font">
|
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FRUCTOSE-1,6-BISPHOSPHATASE, LIVER<br />
|
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FRUCTOSE-1,6-DIPHOSPHATASE
|
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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=FBP1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">FBP1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/9/325?start=-3&limit=10&highlight=325">9q22.32</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:94603133-94640263&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'})">9:94,603,133-94,640,263</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
|
|
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/9/325?start=-3&limit=10&highlight=325">
|
|
9q22.32
|
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</a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Fructose-1,6-bisphosphatase deficiency
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/229700"> 229700 </a>
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/611570" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/611570" 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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<p>Hepatic fructose-1,6-bisphosphatase (FBP1; <a href="https://enzyme.expasy.org/EC/3.1.3.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.1.3.11</a>) catalyzes the hydrolysis of fructose-1,6 bisphosphate to fructose-6-phosphate and inorganic phosphate. This reaction is an important regulatory site of gluconeogenesis.</p><p>See also muscle FBP (FBP2; <a href="/entry/603027">603027</a>).</p>
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<p>Using subtraction cloning, <a href="#8" class="mim-tip-reference" title="Solomon, D. H., Raynal, M.-C., Tejwani, G. A., Cayre, Y. E. <strong>Activation of the fructose 1,6-bisphosphatase gene by 1,25-dihydroxyvitamin D3 during monocytic differentiation.</strong> Proc. Nat. Acad. Sci. 85: 6904-6908, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2842796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2842796</a>] [<a href="https://doi.org/10.1073/pnas.85.18.6904" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2842796">Solomon et al. (1988)</a> isolated human FBP1 based on its upregulation by 1,25-dihydroxyvitamin D3 during monocytic differentiation of HL-60 human leukemia cells. The deduced protein contains 338 amino acids and shares significant homology with its pig ortholog, including conservation of the putative active site. The authors identified 2 distinct FBP1 mRNAs that were regulated at different stages of HL-60 differentiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2842796" 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="El-Maghrabi, M. R., Lange, A. J., Jiang, W., Yamagata, K., Stoffel, M., Takeda, J., Fernald, A. A., Le Beau, M. M., Bell, G. I., Baker, L., Pilkis, S. J. <strong>Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency.</strong> Genomics 27: 520-525, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7558035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7558035</a>] [<a href="https://doi.org/10.1006/geno.1995.1085" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7558035">El-Maghrabi et al. (1995)</a> isolated clones corresponding to the FBP1 gene from human placenta and leukocyte cDNA libraries. The deduced 362-residue protein shares 77% identity to FBP2 (<a href="#9" class="mim-tip-reference" title="Tillmann, H., Eschrich, K. <strong>Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-bisphosphatase.</strong> Gene 212: 295-304, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9678974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9678974</a>] [<a href="https://doi.org/10.1016/s0378-1119(98)00181-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9678974">Tillmann and Eschrich, 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7558035+9678974" 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="Li, B., Qiu, B., Lee, D. S. M., Walton, Z. E., Ochocki, J. D., Mathew, L. K., Mancuso, A., Gade, T. P. F., Keith, B., Nissim, I., Simon, M. C. <strong>Fructose-1,6-bisphosphatase opposes renal carcinoma progression.</strong> Nature 513: 251-255, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25043030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25043030</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25043030[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/10.1038/nature13557" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25043030">Li et al. (2014)</a> used an integrative approach comprising pan-metabolomic profiling and metabolic gene set analysis and determined that FBP1 was uniformly depleted in over 600 clear cell renal cell carcinoma (ccRCC; see <a href="/entry/144700">144700</a>) tumors examined. Notably, the human FBP1 locus resides on chromosome 9q22, the loss of which is associated with poor prognosis for ccRCC patients. The data further indicated that FBP1 inhibits ccRCC progression through 2 distinct mechanisms: first, FBP1 antagonizes glycolytic flux in renal tubular epithelial cells, the presumptive ccRCC cells of origin, thereby inhibiting a potential Warburg effect; second, in VHL (<a href="/entry/608537">608537</a>)-deficient ccRCC cells, FBP1 restrains cell proliferation, glycolysis, and the pentose phosphate pathway in a catalytic activity-independent manner by inhibiting nuclear HIF (see <a href="/entry/603348">603348</a>) function via direct interaction with the HIF inhibitory domain. <a href="#4" class="mim-tip-reference" title="Li, B., Qiu, B., Lee, D. S. M., Walton, Z. E., Ochocki, J. D., Mathew, L. K., Mancuso, A., Gade, T. P. F., Keith, B., Nissim, I., Simon, M. C. <strong>Fructose-1,6-bisphosphatase opposes renal carcinoma progression.</strong> Nature 513: 251-255, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25043030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25043030</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25043030[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/10.1038/nature13557" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25043030">Li et al. (2014)</a> concluded that this unique dual function of the FBP1 protein explains its ubiquitous loss in clear cell renal cell carcinoma, distinguishing FBP1 from previously identified tumor suppressors that are not consistently mutated in all tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25043030" 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="El-Maghrabi, M. R., Lange, A. J., Jiang, W., Yamagata, K., Stoffel, M., Takeda, J., Fernald, A. A., Le Beau, M. M., Bell, G. I., Baker, L., Pilkis, S. J. <strong>Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency.</strong> Genomics 27: 520-525, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7558035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7558035</a>] [<a href="https://doi.org/10.1006/geno.1995.1085" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7558035">El-Maghrabi et al. (1995)</a> determined that the FBP1 gene contains 7 exons and spans more than 31 kb; the 6 introns are in the same positions in the rat gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7558035" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By fluorescence in situ hybridization, <a href="#1" class="mim-tip-reference" title="El-Maghrabi, M. R., Lange, A. J., Jiang, W., Yamagata, K., Stoffel, M., Takeda, J., Fernald, A. A., Le Beau, M. M., Bell, G. I., Baker, L., Pilkis, S. J. <strong>Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency.</strong> Genomics 27: 520-525, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7558035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7558035</a>] [<a href="https://doi.org/10.1006/geno.1995.1085" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7558035">El-Maghrabi et al. (1995)</a> localized the FBP1 gene to chromosome 9q22.2-q22.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7558035" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By physical mapping with FISH and by genetic mapping of an associated GA repeat polymorphism, <a href="#6" class="mim-tip-reference" title="Rothschild, C. B., Freedman, B. I., Hodge, R., Rao, P. N., Pettenati, M. J., Anderson, R. A., Akots, G., Qadri, A., Roh, B., Fajans, S. S., Reis, A., Morris, D. J., Usala, A., Hayward, C., Brock, D., Colle, E., Spray, B. J., Rich, S. S., Bowden, D. W. <strong>Fructose-1,6-bisphosphatase: genetic and physical mapping to human chromosome 9q22.3 and evaluation in non-insulin-dependent diabetes mellitus.</strong> Genomics 29: 187-194, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530070</a>] [<a href="https://doi.org/10.1006/geno.1995.1230" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8530070">Rothschild et al. (1995)</a> mapped the hepatic FBP gene to 9q22.3. Amplification using FBP exon-specific primers with a YAC contig from this region of chromosome 9 further refined the placement of FBP genomic sequences to an approximately 1.7-cM flanked by D9S289 and D9S287, near the gene for Fanconi anemia group C (<a href="/entry/227645">227645</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530070" 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 Japanese patients with FBP1 deficiency (FBP1D; <a href="/entry/229700">229700</a>), <a href="#2" class="mim-tip-reference" title="Kikawa, Y., Inuzuka, M., Jin, B. Y., Kaji, S., Koga, J., Yamamoto, Y., Fujisawa, K., Hata, I., Nakai, A., Shigematsu, Y., Mizunuma, H., Taketo, A., Mayumi, M., Sudo, M. <strong>Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.</strong> Am. J. Hum. Genet. 61: 852-861, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382095</a>] [<a href="https://doi.org/10.1086/514875" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382095">Kikawa et al. (1997)</a> identified homozygous or compound heterozygous mutations in the FBP1 gene (see, e.g., <a href="#0001">611570.0001</a>-<a href="#0004">611570.0004</a>). The 1-bp insertion (960insG; <a href="#0001">611570.0001</a>) was the most common, present in 16 of 22 alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Japanese girl with FBP1 deficiency, <a href="#5" class="mim-tip-reference" title="Matsuura, T., Chinen, Y., Arashiro, R., Katsuren, K., Tamura, T., Hyakuna, N., Ohta, T. <strong>Two newly identified genomic mutations in a Japanese female patients with fructose-1,6-bisphosphatase (FBPase) deficiency.</strong> Molec. Genet. Metab. 76: 207-210, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12126934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12126934</a>] [<a href="https://doi.org/10.1016/s1096-7192(02)00038-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12126934">Matsuura et al. (2002)</a> identified compound heterozygosity for 2 mutations in the FBP1 gene (<a href="#0005">611570.0005</a>; <a href="#0006">611570.0006</a>). <a href="#5" class="mim-tip-reference" title="Matsuura, T., Chinen, Y., Arashiro, R., Katsuren, K., Tamura, T., Hyakuna, N., Ohta, T. <strong>Two newly identified genomic mutations in a Japanese female patients with fructose-1,6-bisphosphatase (FBPase) deficiency.</strong> Molec. Genet. Metab. 76: 207-210, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12126934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12126934</a>] [<a href="https://doi.org/10.1016/s1096-7192(02)00038-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12126934">Matsuura et al. (2002)</a> stated that 11 different pathogenic FBP1 mutations had been reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12126934" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By linkage analysis with highly informative linked markers, <a href="#6" class="mim-tip-reference" title="Rothschild, C. B., Freedman, B. I., Hodge, R., Rao, P. N., Pettenati, M. J., Anderson, R. A., Akots, G., Qadri, A., Roh, B., Fajans, S. S., Reis, A., Morris, D. J., Usala, A., Hayward, C., Brock, D., Colle, E., Spray, B. J., Rich, S. S., Bowden, D. W. <strong>Fructose-1,6-bisphosphatase: genetic and physical mapping to human chromosome 9q22.3 and evaluation in non-insulin-dependent diabetes mellitus.</strong> Genomics 29: 187-194, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530070</a>] [<a href="https://doi.org/10.1006/geno.1995.1230" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8530070">Rothschild et al. (1995)</a> excluded FBP as a candidate gene for maturity-onset diabetes of the young (MODY) and noninsulin-dependent diabetes (NIDDM) in both Caucasian and African American families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530070" 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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<span href="#mimAllelicVariantsFold" id="mimAllelicVariantsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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</span>
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<strong>6 Selected Examples</a>):</strong>
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</span>
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</h4>
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<p />
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<div id="mimAllelicVariantsFold" class="collapse in mimTextToggleFold">
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<a href="/allelicVariants/611570" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=611570[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<a id="0001" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0001 FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY</strong>
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</span>
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</h4>
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FBP1, 1-BP INS, 960G
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs757653154 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs757653154;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs757653154?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs757653154" 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=rs757653154" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000915 OR RCV002512628 OR RCV004791191" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000915, RCV002512628, RCV004791191" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000915...</a>
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<p>In a 10-year-old Japanese girl with fructose-1,6-bisphosphatase deficiency (FBP1D; <a href="/entry/229700">229700</a>), <a href="#3" class="mim-tip-reference" title="Kikawa, Y., Inuzuka, M., Jin, B. Y., Kaji, S., Yamamoto, Y., Shigematsu, Y., Nakai, A., Taketo, A., Ohura, T., Mikami, H., Mizunuma, H., Suzuki, Y., Narisawa, K., Sudo, M. <strong>Identification of a genetic mutation in a family with fructose-1,6-bisphosphatase deficiency.</strong> Biochem. Biophys. Res. Commun. 210: 797-804, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7763253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7763253</a>] [<a href="https://doi.org/10.1006/bbrc.1995.1729" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7763253">Kikawa et al. (1995)</a> identified a homozygous 1-bp insertion (960insG) in exon 7 of the FBP1 gene. The insertion occurred immediately following codon gly320 in the sequence of 5 Gs at nucleotide region 957-961, and resulted in a truncated protein. The patient's unaffected parents were heterozygous for the mutation. The patient had experienced recurrent attacks of metabolic acidosis and hypoglycemia since birth and had undetectable FBPase activity in leukocytes and a liver sample. Although the mutation was not well conserved, expression studies showed no FBPase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7763253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Kikawa, Y., Inuzuka, M., Jin, B. Y., Kaji, S., Koga, J., Yamamoto, Y., Fujisawa, K., Hata, I., Nakai, A., Shigematsu, Y., Mizunuma, H., Taketo, A., Mayumi, M., Sudo, M. <strong>Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.</strong> Am. J. Hum. Genet. 61: 852-861, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382095</a>] [<a href="https://doi.org/10.1086/514875" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382095">Kikawa et al. (1997)</a> identified the 1-bp insertion in 16 of 22 alleles from Japanese patients with FBP1 deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0002" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0002 FRUCTOSE-1,6-BISPHOSPHATASE 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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<div style="float: left;">
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FBP1, GLY164SER
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918188 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918188;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918188?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918188" 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=rs121918188" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000916" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000916" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000916</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In Japanese patients with FBP1 deficiency (FBP1D; <a href="/entry/229700">229700</a>), <a href="#2" class="mim-tip-reference" title="Kikawa, Y., Inuzuka, M., Jin, B. Y., Kaji, S., Koga, J., Yamamoto, Y., Fujisawa, K., Hata, I., Nakai, A., Shigematsu, Y., Mizunuma, H., Taketo, A., Mayumi, M., Sudo, M. <strong>Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.</strong> Am. J. Hum. Genet. 61: 852-861, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382095</a>] [<a href="https://doi.org/10.1086/514875" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382095">Kikawa et al. (1997)</a> identified a 490G-A transition in exon 4 of the FBP1 gene, resulting in a gly164-to-ser (G164S) substitution. In all patients, the mutation was in compound heterozygosity with another pathogenic FBP1 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382095" 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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</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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<a id="0003" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0003 FRUCTOSE-1,6-BISPHOSPHATASE 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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<div style="float: left;">
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FBP1, ALA177ASP
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918189 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918189;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=rs121918189" 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=rs121918189" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000917" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000917" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000917</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Japanese patient with FBP1 deficiency (FBP1D; <a href="/entry/229700">229700</a>), <a href="#2" class="mim-tip-reference" title="Kikawa, Y., Inuzuka, M., Jin, B. Y., Kaji, S., Koga, J., Yamamoto, Y., Fujisawa, K., Hata, I., Nakai, A., Shigematsu, Y., Mizunuma, H., Taketo, A., Mayumi, M., Sudo, M. <strong>Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.</strong> Am. J. Hum. Genet. 61: 852-861, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382095</a>] [<a href="https://doi.org/10.1086/514875" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382095">Kikawa et al. (1997)</a> identified a 530C-A transversion in exon 4 of the FBP1 gene, resulting in an ala177-to-asp (A177D) substitution. The other allele carried the common 1-bp insertion (<a href="#0001">611570.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY</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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FBP1, GLU30TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918190 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918190;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918190?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918190" 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=rs121918190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000918" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000918" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000918</a>
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</span>
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<span class="mim-text-font">
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<p>In a Japanese patient with FBP1 deficiency (FBP1D; <a href="/entry/229700">229700</a>), <a href="#2" class="mim-tip-reference" title="Kikawa, Y., Inuzuka, M., Jin, B. Y., Kaji, S., Koga, J., Yamamoto, Y., Fujisawa, K., Hata, I., Nakai, A., Shigematsu, Y., Mizunuma, H., Taketo, A., Mayumi, M., Sudo, M. <strong>Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.</strong> Am. J. Hum. Genet. 61: 852-861, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382095</a>] [<a href="https://doi.org/10.1086/514875" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382095">Kikawa et al. (1997)</a> identified a homozygous 88G-T transversion in exon 1 of the FBP1 gene, resulting in a glu30-to-ter (E30X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY</strong>
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</span>
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</h4>
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</div>
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FBP1, PHE194SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918191 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918191;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=rs121918191" 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=rs121918191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000919" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000919" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000919</a>
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<span class="mim-text-font">
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<p>In a Japanese girl with FBP1 deficiency (<a href="/entry/229700">229700</a>), <a href="#5" class="mim-tip-reference" title="Matsuura, T., Chinen, Y., Arashiro, R., Katsuren, K., Tamura, T., Hyakuna, N., Ohta, T. <strong>Two newly identified genomic mutations in a Japanese female patients with fructose-1,6-bisphosphatase (FBPase) deficiency.</strong> Molec. Genet. Metab. 76: 207-210, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12126934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12126934</a>] [<a href="https://doi.org/10.1016/s1096-7192(02)00038-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12126934">Matsuura et al. (2002)</a> identified compound heterozygosity for 2 mutations in the FBP1 gene: a 581T-C transition in exon 5 resulting in a phe194-to-ser (F194S) substitution, and an 851C-G transversion in exon 7 resulting in a pro284-to-arg (P284R; <a href="#0006">611570.0006</a>) substitution. Each unaffected parent was heterozygous for 1 of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12126934" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY</strong>
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FBP1, PRO284ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918192 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918192;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=rs121918192" 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=rs121918192" 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=RCV000000920" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000920" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000920</a>
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<p>For discussion of the pro284-to-arg (P284R) mutation in the FBP1 gene that was found in compound heterozygous state in a Japanese patient with FBP1 deficiency (FBP1D; <a href="/entry/229700">229700</a>) by <a href="#5" class="mim-tip-reference" title="Matsuura, T., Chinen, Y., Arashiro, R., Katsuren, K., Tamura, T., Hyakuna, N., Ohta, T. <strong>Two newly identified genomic mutations in a Japanese female patients with fructose-1,6-bisphosphatase (FBPase) deficiency.</strong> Molec. Genet. Metab. 76: 207-210, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12126934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12126934</a>] [<a href="https://doi.org/10.1016/s1096-7192(02)00038-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12126934">Matsuura et al. (2002)</a>, see <a href="#0005">611570.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12126934" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Sia1969" class="mim-tip-reference" title="Sia, C. L., Traniello, S., Pontremoli, S., Horecker, B. L. <strong>Studies on the subunit structure of rabbit liver fructose diphosphatase.</strong> Arch. Biochem. Biophys. 132: 325-330, 1969.">Sia et al. (1969)</a>
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<a id="El-Maghrabi1995" class="mim-anchor"></a>
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El-Maghrabi, M. R., Lange, A. J., Jiang, W., Yamagata, K., Stoffel, M., Takeda, J., Fernald, A. A., Le Beau, M. M., Bell, G. I., Baker, L., Pilkis, S. J.
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<strong>Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency.</strong>
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Genomics 27: 520-525, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7558035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7558035</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7558035" 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.1995.1085" target="_blank">Full Text</a>]
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Kikawa, Y., Inuzuka, M., Jin, B. Y., Kaji, S., Koga, J., Yamamoto, Y., Fujisawa, K., Hata, I., Nakai, A., Shigematsu, Y., Mizunuma, H., Taketo, A., Mayumi, M., Sudo, M.
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<strong>Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.</strong>
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Am. J. Hum. Genet. 61: 852-861, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382095</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382095" 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/10.1086/514875" target="_blank">Full Text</a>]
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Kikawa, Y., Inuzuka, M., Jin, B. Y., Kaji, S., Yamamoto, Y., Shigematsu, Y., Nakai, A., Taketo, A., Ohura, T., Mikami, H., Mizunuma, H., Suzuki, Y., Narisawa, K., Sudo, M.
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<strong>Identification of a genetic mutation in a family with fructose-1,6-bisphosphatase deficiency.</strong>
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Biochem. Biophys. Res. Commun. 210: 797-804, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7763253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7763253</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7763253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/bbrc.1995.1729" target="_blank">Full Text</a>]
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<a id="Li2014" class="mim-anchor"></a>
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Li, B., Qiu, B., Lee, D. S. M., Walton, Z. E., Ochocki, J. D., Mathew, L. K., Mancuso, A., Gade, T. P. F., Keith, B., Nissim, I., Simon, M. C.
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<strong>Fructose-1,6-bisphosphatase opposes renal carcinoma progression.</strong>
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Nature 513: 251-255, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25043030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25043030</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25043030[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=25043030" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature13557" target="_blank">Full Text</a>]
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Matsuura, T., Chinen, Y., Arashiro, R., Katsuren, K., Tamura, T., Hyakuna, N., Ohta, T.
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<strong>Two newly identified genomic mutations in a Japanese female patients with fructose-1,6-bisphosphatase (FBPase) deficiency.</strong>
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Molec. Genet. Metab. 76: 207-210, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12126934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12126934</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12126934" 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/s1096-7192(02)00038-0" target="_blank">Full Text</a>]
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Rothschild, C. B., Freedman, B. I., Hodge, R., Rao, P. N., Pettenati, M. J., Anderson, R. A., Akots, G., Qadri, A., Roh, B., Fajans, S. S., Reis, A., Morris, D. J., Usala, A., Hayward, C., Brock, D., Colle, E., Spray, B. J., Rich, S. S., Bowden, D. W.
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<strong>Fructose-1,6-bisphosphatase: genetic and physical mapping to human chromosome 9q22.3 and evaluation in non-insulin-dependent diabetes mellitus.</strong>
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Genomics 29: 187-194, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530070</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530070" 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.1995.1230" target="_blank">Full Text</a>]
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Sia, C. L., Traniello, S., Pontremoli, S., Horecker, B. L.
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<strong>Studies on the subunit structure of rabbit liver fructose diphosphatase.</strong>
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Arch. Biochem. Biophys. 132: 325-330, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4307819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4307819</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4307819" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Solomon, D. H., Raynal, M.-C., Tejwani, G. A., Cayre, Y. E.
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<strong>Activation of the fructose 1,6-bisphosphatase gene by 1,25-dihydroxyvitamin D3 during monocytic differentiation.</strong>
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Proc. Nat. Acad. Sci. 85: 6904-6908, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2842796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2842796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2842796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Tillmann, H., Eschrich, K.
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<strong>Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-bisphosphatase.</strong>
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Gene 212: 295-304, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9678974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9678974</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9678974" 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/s0378-1119(98)00181-4" target="_blank">Full Text</a>]
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Matthew B. Gross - updated : 03/09/2020
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Ada Hamosh - updated : 10/10/2014
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Cassandra L. Kniffin : 10/31/2007
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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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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mgross : 03/09/2020
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</span>
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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 : 06/29/2015<br>mcolton : 6/15/2015<br>alopez : 10/10/2014<br>carol : 11/2/2007<br>ckniffin : 11/1/2007
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611570
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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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FRUCTOSE-1,6-BISPHOSPHATASE 1; FBP1
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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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<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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FRUCTOSE-1,6-BISPHOSPHATASE, LIVER<br />
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FRUCTOSE-1,6-DIPHOSPHATASE
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</span>
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</h4>
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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: FBP1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 28183005;
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<strong>ICD10CM:</strong> E74.19;
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</span>
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</p>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 9q22.32
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:94,603,133-94,640,263 </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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<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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9q22.32
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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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Fructose-1,6-bisphosphatase 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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229700
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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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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hepatic fructose-1,6-bisphosphatase (FBP1; EC 3.1.3.11) catalyzes the hydrolysis of fructose-1,6 bisphosphate to fructose-6-phosphate and inorganic phosphate. This reaction is an important regulatory site of gluconeogenesis.</p><p>See also muscle FBP (FBP2; 603027).</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>Using subtraction cloning, Solomon et al. (1988) isolated human FBP1 based on its upregulation by 1,25-dihydroxyvitamin D3 during monocytic differentiation of HL-60 human leukemia cells. The deduced protein contains 338 amino acids and shares significant homology with its pig ortholog, including conservation of the putative active site. The authors identified 2 distinct FBP1 mRNAs that were regulated at different stages of HL-60 differentiation. </p><p>El-Maghrabi et al. (1995) isolated clones corresponding to the FBP1 gene from human placenta and leukocyte cDNA libraries. The deduced 362-residue protein shares 77% identity to FBP2 (Tillmann and Eschrich, 1998). </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>Li et al. (2014) used an integrative approach comprising pan-metabolomic profiling and metabolic gene set analysis and determined that FBP1 was uniformly depleted in over 600 clear cell renal cell carcinoma (ccRCC; see 144700) tumors examined. Notably, the human FBP1 locus resides on chromosome 9q22, the loss of which is associated with poor prognosis for ccRCC patients. The data further indicated that FBP1 inhibits ccRCC progression through 2 distinct mechanisms: first, FBP1 antagonizes glycolytic flux in renal tubular epithelial cells, the presumptive ccRCC cells of origin, thereby inhibiting a potential Warburg effect; second, in VHL (608537)-deficient ccRCC cells, FBP1 restrains cell proliferation, glycolysis, and the pentose phosphate pathway in a catalytic activity-independent manner by inhibiting nuclear HIF (see 603348) function via direct interaction with the HIF inhibitory domain. Li et al. (2014) concluded that this unique dual function of the FBP1 protein explains its ubiquitous loss in clear cell renal cell carcinoma, distinguishing FBP1 from previously identified tumor suppressors that are not consistently mutated in all tumors. </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>El-Maghrabi et al. (1995) determined that the FBP1 gene contains 7 exons and spans more than 31 kb; the 6 introns are in the same positions in the rat gene. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By fluorescence in situ hybridization, El-Maghrabi et al. (1995) localized the FBP1 gene to chromosome 9q22.2-q22.3. </p><p>By physical mapping with FISH and by genetic mapping of an associated GA repeat polymorphism, Rothschild et al. (1995) mapped the hepatic FBP gene to 9q22.3. Amplification using FBP exon-specific primers with a YAC contig from this region of chromosome 9 further refined the placement of FBP genomic sequences to an approximately 1.7-cM flanked by D9S289 and D9S287, near the gene for Fanconi anemia group C (227645). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In Japanese patients with FBP1 deficiency (FBP1D; 229700), Kikawa et al. (1997) identified homozygous or compound heterozygous mutations in the FBP1 gene (see, e.g., 611570.0001-611570.0004). The 1-bp insertion (960insG; 611570.0001) was the most common, present in 16 of 22 alleles. </p><p>In a Japanese girl with FBP1 deficiency, Matsuura et al. (2002) identified compound heterozygosity for 2 mutations in the FBP1 gene (611570.0005; 611570.0006). Matsuura et al. (2002) stated that 11 different pathogenic FBP1 mutations had been reported. </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>History</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By linkage analysis with highly informative linked markers, Rothschild et al. (1995) excluded FBP as a candidate gene for maturity-onset diabetes of the young (MODY) and noninsulin-dependent diabetes (NIDDM) in both Caucasian and African American families. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
|
<strong>6 Selected Examples):</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 FRUCTOSE-1,6-BISPHOSPHATASE 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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FBP1, 1-BP INS, 960G
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<br />
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SNP: rs757653154,
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gnomAD: rs757653154,
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ClinVar: RCV000000915, RCV002512628, RCV004791191
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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 10-year-old Japanese girl with fructose-1,6-bisphosphatase deficiency (FBP1D; 229700), Kikawa et al. (1995) identified a homozygous 1-bp insertion (960insG) in exon 7 of the FBP1 gene. The insertion occurred immediately following codon gly320 in the sequence of 5 Gs at nucleotide region 957-961, and resulted in a truncated protein. The patient's unaffected parents were heterozygous for the mutation. The patient had experienced recurrent attacks of metabolic acidosis and hypoglycemia since birth and had undetectable FBPase activity in leukocytes and a liver sample. Although the mutation was not well conserved, expression studies showed no FBPase activity. </p><p>Kikawa et al. (1997) identified the 1-bp insertion in 16 of 22 alleles from Japanese patients with FBP1 deficiency. </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>.0002 FRUCTOSE-1,6-BISPHOSPHATASE 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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FBP1, GLY164SER
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<br />
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SNP: rs121918188,
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gnomAD: rs121918188,
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ClinVar: RCV000000916
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
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<p>In Japanese patients with FBP1 deficiency (FBP1D; 229700), Kikawa et al. (1997) identified a 490G-A transition in exon 4 of the FBP1 gene, resulting in a gly164-to-ser (G164S) substitution. In all patients, the mutation was in compound heterozygosity with another pathogenic FBP1 mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0003 FRUCTOSE-1,6-BISPHOSPHATASE 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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FBP1, ALA177ASP
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<br />
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SNP: rs121918189,
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ClinVar: RCV000000917
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
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<p>In a Japanese patient with FBP1 deficiency (FBP1D; 229700), Kikawa et al. (1997) identified a 530C-A transversion in exon 4 of the FBP1 gene, resulting in an ala177-to-asp (A177D) substitution. The other allele carried the common 1-bp insertion (611570.0001). </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">
|
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<strong>.0004 FRUCTOSE-1,6-BISPHOSPHATASE 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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FBP1, GLU30TER
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<br />
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SNP: rs121918190,
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gnomAD: rs121918190,
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ClinVar: RCV000000918
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a Japanese patient with FBP1 deficiency (FBP1D; 229700), Kikawa et al. (1997) identified a homozygous 88G-T transversion in exon 1 of the FBP1 gene, resulting in a glu30-to-ter (E30X) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0005 FRUCTOSE-1,6-BISPHOSPHATASE 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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FBP1, PHE194SER
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<br />
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SNP: rs121918191,
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ClinVar: RCV000000919
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Japanese girl with FBP1 deficiency (229700), Matsuura et al. (2002) identified compound heterozygosity for 2 mutations in the FBP1 gene: a 581T-C transition in exon 5 resulting in a phe194-to-ser (F194S) substitution, and an 851C-G transversion in exon 7 resulting in a pro284-to-arg (P284R; 611570.0006) substitution. Each unaffected parent was heterozygous for 1 of the mutations. </p>
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<strong>.0006 FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY</strong>
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FBP1, PRO284ARG
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<br />
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SNP: rs121918192,
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ClinVar: RCV000000920
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<p>For discussion of the pro284-to-arg (P284R) mutation in the FBP1 gene that was found in compound heterozygous state in a Japanese patient with FBP1 deficiency (FBP1D; 229700) by Matsuura et al. (2002), see 611570.0005. </p>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Sia et al. (1969)
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<br />
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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El-Maghrabi, M. R., Lange, A. J., Jiang, W., Yamagata, K., Stoffel, M., Takeda, J., Fernald, A. A., Le Beau, M. M., Bell, G. I., Baker, L., Pilkis, S. J.
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<strong>Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency.</strong>
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Genomics 27: 520-525, 1995.
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[PubMed: 7558035]
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[Full Text: https://doi.org/10.1006/geno.1995.1085]
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Kikawa, Y., Inuzuka, M., Jin, B. Y., Kaji, S., Koga, J., Yamamoto, Y., Fujisawa, K., Hata, I., Nakai, A., Shigematsu, Y., Mizunuma, H., Taketo, A., Mayumi, M., Sudo, M.
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<strong>Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.</strong>
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Am. J. Hum. Genet. 61: 852-861, 1997.
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[PubMed: 9382095]
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[Full Text: https://doi.org/10.1086/514875]
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Kikawa, Y., Inuzuka, M., Jin, B. Y., Kaji, S., Yamamoto, Y., Shigematsu, Y., Nakai, A., Taketo, A., Ohura, T., Mikami, H., Mizunuma, H., Suzuki, Y., Narisawa, K., Sudo, M.
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<strong>Identification of a genetic mutation in a family with fructose-1,6-bisphosphatase deficiency.</strong>
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Biochem. Biophys. Res. Commun. 210: 797-804, 1995.
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[PubMed: 7763253]
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[Full Text: https://doi.org/10.1006/bbrc.1995.1729]
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<p class="mim-text-font">
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Li, B., Qiu, B., Lee, D. S. M., Walton, Z. E., Ochocki, J. D., Mathew, L. K., Mancuso, A., Gade, T. P. F., Keith, B., Nissim, I., Simon, M. C.
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<strong>Fructose-1,6-bisphosphatase opposes renal carcinoma progression.</strong>
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Nature 513: 251-255, 2014.
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[PubMed: 25043030]
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[Full Text: https://doi.org/10.1038/nature13557]
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Matsuura, T., Chinen, Y., Arashiro, R., Katsuren, K., Tamura, T., Hyakuna, N., Ohta, T.
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<strong>Two newly identified genomic mutations in a Japanese female patients with fructose-1,6-bisphosphatase (FBPase) deficiency.</strong>
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Molec. Genet. Metab. 76: 207-210, 2002.
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[PubMed: 12126934]
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[Full Text: https://doi.org/10.1016/s1096-7192(02)00038-0]
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Rothschild, C. B., Freedman, B. I., Hodge, R., Rao, P. N., Pettenati, M. J., Anderson, R. A., Akots, G., Qadri, A., Roh, B., Fajans, S. S., Reis, A., Morris, D. J., Usala, A., Hayward, C., Brock, D., Colle, E., Spray, B. J., Rich, S. S., Bowden, D. W.
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<strong>Fructose-1,6-bisphosphatase: genetic and physical mapping to human chromosome 9q22.3 and evaluation in non-insulin-dependent diabetes mellitus.</strong>
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Genomics 29: 187-194, 1995.
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[PubMed: 8530070]
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[Full Text: https://doi.org/10.1006/geno.1995.1230]
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<p class="mim-text-font">
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Sia, C. L., Traniello, S., Pontremoli, S., Horecker, B. L.
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<strong>Studies on the subunit structure of rabbit liver fructose diphosphatase.</strong>
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Arch. Biochem. Biophys. 132: 325-330, 1969.
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[PubMed: 4307819]
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[Full Text: https://doi.org/10.1016/0003-9861(69)90369-5]
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<p class="mim-text-font">
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Solomon, D. H., Raynal, M.-C., Tejwani, G. A., Cayre, Y. E.
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<strong>Activation of the fructose 1,6-bisphosphatase gene by 1,25-dihydroxyvitamin D3 during monocytic differentiation.</strong>
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Proc. Nat. Acad. Sci. 85: 6904-6908, 1988.
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[PubMed: 2842796]
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[Full Text: https://doi.org/10.1073/pnas.85.18.6904]
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<p class="mim-text-font">
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Tillmann, H., Eschrich, K.
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<strong>Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-bisphosphatase.</strong>
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Gene 212: 295-304, 1998.
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[PubMed: 9678974]
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[Full Text: https://doi.org/10.1016/s0378-1119(98)00181-4]
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Matthew B. Gross - updated : 03/09/2020<br>Ada Hamosh - updated : 10/10/2014
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