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Entry
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- *610531 - HYCCIN, PI4KA LIPID KINASE COMPLEX, SUBUNIT 1; HYCC1
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- OMIM
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<p>
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<span class="h4">*610531</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/610531">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<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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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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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 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=ENSG00000122591;t=ENST00000432176" 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=84668" 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=610531" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000122591;t=ENST00000432176" 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_001363466,NM_001363467,NM_032581,XM_011515589,XM_011515590" 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_032581" 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=610531" 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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<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=16837&isoform_id=16837_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/HYCC1" 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/13442784,16549513,16551687,17511709,19923646,34364863,41393460,41473680,51095018,77416421,119614173,119614174,194386946,767945973,767945976,957951645,957951649,957951652,1390249258,1390249260,2462616640,2462616642" 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/Q9BYI3" 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=84668" 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=ENSG00000122591;t=ENST00000432176" 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=HYCC1" 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=HYCC1" 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+84668" 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/HYCC1" 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:84668" 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/84668" 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=chr7&hgg_gene=ENST00000432176.7&hgg_start=22895843&hgg_end=23014130&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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<div 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://medlineplus.gov/genetics/gene/hycc1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=610531[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=610531[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000122591" 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=HYCC1" 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=HYCC1" 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=HYCC1" 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=HYCC1&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/PA162385852" 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:24587" 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/FBgn0034269.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:2149839" 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/HYCC1#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:2149839" 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/84668/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=84668" 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=WBGene00017037;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-040426-1806" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=HYCC1&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> 702379005<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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610531
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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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HYCCIN, PI4KA LIPID KINASE COMPLEX, SUBUNIT 1; HYCC1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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|
<span class="mim-font">
|
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FAMILY WITH SEQUENCE SIMILARITY 126, MEMBER A; FAM126A<br />
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DOWNREGULATED BY CTNNB1, PROTEIN A; DRCTNNB1A<br />
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HYCCIN
|
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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=HYCC1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">HYCC1</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/7/110?start=-3&limit=10&highlight=110">7p15.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:22895843-23014130&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'})">7:22,895,843-23,014,130</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
<a href="/geneMap/7/110?start=-3&limit=10&highlight=110">
|
|
7p15.3
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Leukodystrophy, hypomyelinating, 5
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/610532"> 610532 </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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|
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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/610531" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/610531" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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|
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<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
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</h4>
|
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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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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<p><a href="#3" class="mim-tip-reference" title="Kawasoe, T., Furukawa, Y., Daigo, Y., Nishiwaki, T., Ishiguro, H., Fujita, M., Satoh, S., Miwa, N., Nagasawa, Y., Miyoshi, Y., Ogawa, M., Nakamura, Y. <strong>Isolation and characterization of a novel human gene, DRCTNNB1A, the expression of which is down-regulated by beta-catenin.</strong> Cancer Res. 60: 3354-3358, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10910037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10910037</a>]" pmid="10910037">Kawasoe et al. (2000)</a> identified FAM126A, which they called DRCTNNB1A, as a 521-amino acid protein whose expression was downregulated by beta-catenin (<a href="/entry/116806">116806</a>). <a href="#5" class="mim-tip-reference" title="Zara, F., Biancheri, R., Bruno, C., Bordo, L., Assereto, S., Gazzerro, E., Sotgia, F., Wang, X. B., Gianotti, S., Stringara, S., Pedemonte, M., Uziel, G., Rossi, A., Schenone, A., Tortori-Donati, P., van der Knaap, M. S., Lisanti, M. P., Minetti, C. <strong>Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.</strong> Nature Genet. 38: 1111-1113, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16951682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16951682</a>] [<a href="https://doi.org/10.1038/ng1870" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16951682">Zara et al. (2006)</a>, who referred to the protein as hyccin, noted the presence of putative orthologs in different species. RNA blot analysis showed that DRCTNNB1A is expressed in several adult tissues including heart, kidney, and placenta, and is ubiquitously expressed in brain. Using RT-PCR, <a href="#5" class="mim-tip-reference" title="Zara, F., Biancheri, R., Bruno, C., Bordo, L., Assereto, S., Gazzerro, E., Sotgia, F., Wang, X. B., Gianotti, S., Stringara, S., Pedemonte, M., Uziel, G., Rossi, A., Schenone, A., Tortori-Donati, P., van der Knaap, M. S., Lisanti, M. P., Minetti, C. <strong>Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.</strong> Nature Genet. 38: 1111-1113, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16951682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16951682</a>] [<a href="https://doi.org/10.1038/ng1870" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16951682">Zara et al. (2006)</a> showed that DRCTNNB1A is expressed in the lens. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10910037+16951682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Kawasoe, T., Furukawa, Y., Daigo, Y., Nishiwaki, T., Ishiguro, H., Fujita, M., Satoh, S., Miwa, N., Nagasawa, Y., Miyoshi, Y., Ogawa, M., Nakamura, Y. <strong>Isolation and characterization of a novel human gene, DRCTNNB1A, the expression of which is down-regulated by beta-catenin.</strong> Cancer Res. 60: 3354-3358, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10910037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10910037</a>]" pmid="10910037">Kawasoe et al. (2000)</a> mapped the FAM126A gene to chromosome 7p15.3 by FISH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10910037" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The process of myelination occurs as an interplay between glial cells and neurons. The findings of <a href="#5" class="mim-tip-reference" title="Zara, F., Biancheri, R., Bruno, C., Bordo, L., Assereto, S., Gazzerro, E., Sotgia, F., Wang, X. B., Gianotti, S., Stringara, S., Pedemonte, M., Uziel, G., Rossi, A., Schenone, A., Tortori-Donati, P., van der Knaap, M. S., Lisanti, M. P., Minetti, C. <strong>Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.</strong> Nature Genet. 38: 1111-1113, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16951682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16951682</a>] [<a href="https://doi.org/10.1038/ng1870" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16951682">Zara et al. (2006)</a> indicated that hyccin is essential for proper myelination in both the central and peripheral nervous system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16951682" 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 proteomic analysis in HeLa cells, <a href="#1" class="mim-tip-reference" title="Baskin, J. M., Wu, X., Christiano, R., Oh, M. S., Schauder, C. M., Gazzerro, E., Messa, M., Baldassari, S., Assereto, S., Biancheri, R., Zara, F., Minetti, C., Raimondi, A., Simons, M., Walther, T. C., Reinisch, K. M., De Camilli, P. <strong>The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.</strong> Nat. Cell Biol. 18: 132-138, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26571211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26571211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26571211[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/ncb3271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26571211">Baskin et al. (2016)</a> confirmed that TTC7B (<a href="/entry/620060">620060</a>), ERF3A (<a href="/entry/611798">611798</a>), and EFR3B (<a href="/entry/616797">616797</a>) were components of the PI4KIII-alpha (PI4KA; <a href="/entry/600286">600286</a>) complex. They identified FAM126A or FAM126B (HYCC2) as additional components of the PI4KIII-alpha complex. TTC7B played a central role in bridging PI4KIII-alpha to EFR3B. Moreover, FAM126A bound directly to TTC7B through its N-terminal portion to form a heterodimer, and FAM126A-TTC7B bound to PI4KIII-alpha simultaneously to form a ternary complex. Interaction of PI4KIII-alpha with TTC7B and FAM126A appeared to stabilize the PI4KIII-alpha fold and stimulate catalytic activity. Moreover, FAM126A loss or reduction in mouse or human destabilized and degraded PI4KIII-alpha complex components and affected PI4KIII-alpha complex assembly and PI4KIII-alpha-mediated PtdIns4P synthesis at the plasma membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26571211" 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="Baskin, J. M., Wu, X., Christiano, R., Oh, M. S., Schauder, C. M., Gazzerro, E., Messa, M., Baldassari, S., Assereto, S., Biancheri, R., Zara, F., Minetti, C., Raimondi, A., Simons, M., Walther, T. C., Reinisch, K. M., De Camilli, P. <strong>The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.</strong> Nat. Cell Biol. 18: 132-138, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26571211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26571211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26571211[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/ncb3271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26571211">Baskin et al. (2016)</a> determined the crystal structure of TTC7B in complex with the N-terminal portion of FAM126A (FAM126A-N, residues 1 to 289) at 2.9-angstrom resolution. Both proteins were almost entirely alpha helical. TTC7B alpha helices were arranged into a superhelix, with the C-terminal peptide inserted into the center of the superhelix. In contrast, FAM126A-N was globular, except for a long hairpin (residues 121 to 165) that extended out and wrapped around TTC7B. The 2 proteins interacted to form a large interface conserved in metazoans, as well as a conserved binding surface for PI4KIII-alpha. The structural data supported the stabilizing function proposed for TTC7B and FAM126A in the PI4KIII-alpha complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26571211" 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 systematic screening of all 31 transcripts in a critical linkage region on 7p21.3-p15.3 identified in families with hypomyelinating leukodystrophy-5 (HLD5; <a href="/entry/610532">610532</a>), which is associated with congenital cataract, <a href="#5" class="mim-tip-reference" title="Zara, F., Biancheri, R., Bruno, C., Bordo, L., Assereto, S., Gazzerro, E., Sotgia, F., Wang, X. B., Gianotti, S., Stringara, S., Pedemonte, M., Uziel, G., Rossi, A., Schenone, A., Tortori-Donati, P., van der Knaap, M. S., Lisanti, M. P., Minetti, C. <strong>Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.</strong> Nature Genet. 38: 1111-1113, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16951682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16951682</a>] [<a href="https://doi.org/10.1038/ng1870" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16951682">Zara et al. (2006)</a> detected 3 mutations in the DRCTNNB1A gene in 5 families. Two affected a splice site (<a href="#0001">610531.0001</a>, <a href="#0002">610531.0002</a>) and the third was a missense mutation (<a href="#0003">610531.0003</a>). <a href="#5" class="mim-tip-reference" title="Zara, F., Biancheri, R., Bruno, C., Bordo, L., Assereto, S., Gazzerro, E., Sotgia, F., Wang, X. B., Gianotti, S., Stringara, S., Pedemonte, M., Uziel, G., Rossi, A., Schenone, A., Tortori-Donati, P., van der Knaap, M. S., Lisanti, M. P., Minetti, C. <strong>Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.</strong> Nature Genet. 38: 1111-1113, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16951682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16951682</a>] [<a href="https://doi.org/10.1038/ng1870" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16951682">Zara et al. (2006)</a> concluded that their findings indicated the presence of a molecular link between cerebral and peripheral myelination disorders and congenital cataract. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16951682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Ugur, S. A., Tolun, A. <strong>A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.</strong> Europ. J. Hum. Genet. 16: 261-264, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17928815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17928815</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201935" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17928815">Ugur and Tolun (2008)</a> identified a homozygous intragenic deletion in the FAM126A gene (<a href="#0004">610531.0004</a>) in affected members of a consanguineous Turkish family with hypomyelinating leukodystrophy and congenital cataracts. One patient developed cataracts at age 9 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17928815" 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 6 individuals in 3 families, <a href="#5" class="mim-tip-reference" title="Zara, F., Biancheri, R., Bruno, C., Bordo, L., Assereto, S., Gazzerro, E., Sotgia, F., Wang, X. B., Gianotti, S., Stringara, S., Pedemonte, M., Uziel, G., Rossi, A., Schenone, A., Tortori-Donati, P., van der Knaap, M. S., Lisanti, M. P., Minetti, C. <strong>Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.</strong> Nature Genet. 38: 1111-1113, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16951682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16951682</a>] [<a href="https://doi.org/10.1038/ng1870" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16951682">Zara et al. (2006)</a> demonstrated that hypomyelinating leukodystrophy-5 (HLD5; <a href="/entry/610532">610532</a>) was associated with a splice site mutation in the FAM126A gene: IVS2+1G-A. One patient had lost the ability to walk with support at the age of 8 years and showed pyramidal and cerebellar signs as well as signs of peripheral neuropathy. An affected male in another family lost the ability to walk with support at the age of 9 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16951682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 LEUKODYSTROPHY, HYPOMYELINATING, 5</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs72549406 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72549406;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=rs72549406" 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=rs72549406" 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=RCV000001274" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001274" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001274</a>
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<p>In 3 sibs with hypomyelination and congenital cataract (HLD5; <a href="/entry/610532">610532</a>), <a href="#5" class="mim-tip-reference" title="Zara, F., Biancheri, R., Bruno, C., Bordo, L., Assereto, S., Gazzerro, E., Sotgia, F., Wang, X. B., Gianotti, S., Stringara, S., Pedemonte, M., Uziel, G., Rossi, A., Schenone, A., Tortori-Donati, P., van der Knaap, M. S., Lisanti, M. P., Minetti, C. <strong>Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.</strong> Nature Genet. 38: 1111-1113, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16951682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16951682</a>] [<a href="https://doi.org/10.1038/ng1870" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16951682">Zara et al. (2006)</a> observed a splice site mutation of the FAM126A gene: IVS5+1G-T. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16951682" 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="Biancheri, R., Zara, F., Rossi, A., Mathot, M., Nassogne, M. C., Yalcinkaya, C., Erturk, O., Tuysuz, B., Di Rocco, M., Gazzerro, E., Bugiani, M., van Spaendonk, R., Sistermans, E. A., Minetti, C., van der Knaap, M. S., Wolf, N. I. <strong>Hypomyelination and congenital cataract: broadening the clinical phenotype.</strong> Arch. Neurol. 68: 1191-1194, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21911699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21911699</a>] [<a href="https://doi.org/10.1001/archneurol.2011.201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21911699">Biancheri et al. (2011)</a> identified homozygosity for the IVS5+1G-T mutation in 4 unrelated patients with HLD5 from the Mediterranean region. Haplotype analysis of 3 of these patients and the patient reported by <a href="#5" class="mim-tip-reference" title="Zara, F., Biancheri, R., Bruno, C., Bordo, L., Assereto, S., Gazzerro, E., Sotgia, F., Wang, X. B., Gianotti, S., Stringara, S., Pedemonte, M., Uziel, G., Rossi, A., Schenone, A., Tortori-Donati, P., van der Knaap, M. S., Lisanti, M. P., Minetti, C. <strong>Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.</strong> Nature Genet. 38: 1111-1113, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16951682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16951682</a>] [<a href="https://doi.org/10.1038/ng1870" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16951682">Zara et al. (2006)</a> suggested a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16951682+21911699" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 LEUKODYSTROPHY, HYPOMYELINATING, 5</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs72549407 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72549407;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/rs72549407?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=rs72549407" 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=rs72549407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with hypomyelination and congenital cataract (HLD5; <a href="/entry/610532">610532</a>), <a href="#5" class="mim-tip-reference" title="Zara, F., Biancheri, R., Bruno, C., Bordo, L., Assereto, S., Gazzerro, E., Sotgia, F., Wang, X. B., Gianotti, S., Stringara, S., Pedemonte, M., Uziel, G., Rossi, A., Schenone, A., Tortori-Donati, P., van der Knaap, M. S., Lisanti, M. P., Minetti, C. <strong>Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.</strong> Nature Genet. 38: 1111-1113, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16951682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16951682</a>] [<a href="https://doi.org/10.1038/ng1870" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16951682">Zara et al. (2006)</a> observed a 158T-C transition in the FAM126A gene, predicted to cause a leu53-to-pro (L53P) amino acid change in the hyccin protein. A residual amount of hyccin protein was found in this patient, who manifested a relatively mild phenotype; this finding suggested a correlation between reduced protein level and phenotypic severity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16951682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 LEUKODYSTROPHY, HYPOMYELINATING, 5</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020928" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020928" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020928</a>
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<p>In 3 patients from a consanguineous Turkish family with hypomyelinating leukodystrophy and congenital cataracts (HLD5; <a href="/entry/610532">610532</a>), <a href="#4" class="mim-tip-reference" title="Ugur, S. A., Tolun, A. <strong>A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.</strong> Europ. J. Hum. Genet. 16: 261-264, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17928815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17928815</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201935" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17928815">Ugur and Tolun (2008)</a> identified a homozygous intragenic 4,084-bp deletion (531-439_743+348del) in the FAM126A gene, resulting in skipping of exon 8 and 9, frameshift at the beginning of exon 10, and premature termination at codon 214. The region of the deletion was flanked by an 82- and 83-bp direct repeat, suggesting that it resulted from unequal crossover. Clinical details of the 10-year-old male proband included congenital bilateral cataract, psychomotor regression beginning around 1 year of age, moderate mental retardation, and white matter changes in supratentorial structures and paraventricular regions. He also had a sensorimotor peripheral demyelinating neuropathy and never achieved walking. Two other affected individuals died at ages 2 and 12 years, respectively. One of the patients developed cataracts at age 9 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17928815" 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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Baskin, J. M., Wu, X., Christiano, R., Oh, M. S., Schauder, C. M., Gazzerro, E., Messa, M., Baldassari, S., Assereto, S., Biancheri, R., Zara, F., Minetti, C., Raimondi, A., Simons, M., Walther, T. C., Reinisch, K. M., De Camilli, P.
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<strong>The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.</strong>
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Nat. Cell Biol. 18: 132-138, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26571211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26571211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26571211[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=26571211" 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/ncb3271" target="_blank">Full Text</a>]
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Biancheri, R., Zara, F., Rossi, A., Mathot, M., Nassogne, M. C., Yalcinkaya, C., Erturk, O., Tuysuz, B., Di Rocco, M., Gazzerro, E., Bugiani, M., van Spaendonk, R., Sistermans, E. A., Minetti, C., van der Knaap, M. S., Wolf, N. I.
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<strong>Hypomyelination and congenital cataract: broadening the clinical phenotype.</strong>
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Arch. Neurol. 68: 1191-1194, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21911699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21911699</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21911699" 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/10.1001/archneurol.2011.201" target="_blank">Full Text</a>]
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Kawasoe, T., Furukawa, Y., Daigo, Y., Nishiwaki, T., Ishiguro, H., Fujita, M., Satoh, S., Miwa, N., Nagasawa, Y., Miyoshi, Y., Ogawa, M., Nakamura, Y.
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<strong>Isolation and characterization of a novel human gene, DRCTNNB1A, the expression of which is down-regulated by beta-catenin.</strong>
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Cancer Res. 60: 3354-3358, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10910037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10910037</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10910037" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ugur, S. A., Tolun, A.
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<strong>A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.</strong>
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Europ. J. Hum. Genet. 16: 261-264, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17928815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17928815</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17928815" 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/sj.ejhg.5201935" target="_blank">Full Text</a>]
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Zara, F., Biancheri, R., Bruno, C., Bordo, L., Assereto, S., Gazzerro, E., Sotgia, F., Wang, X. B., Gianotti, S., Stringara, S., Pedemonte, M., Uziel, G., Rossi, A., Schenone, A., Tortori-Donati, P., van der Knaap, M. S., Lisanti, M. P., Minetti, C.
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<strong>Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.</strong>
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Nature Genet. 38: 1111-1113, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16951682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16951682</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16951682" 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/ng1870" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 08/07/2023
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/31/2012<br>Cassandra L. Kniffin - updated : 1/25/2010
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 10/27/2006
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 08/07/2023
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<span class="mim-text-font">
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mgross : 09/28/2022<br>carol : 06/15/2017<br>carol : 09/24/2013<br>carol : 11/9/2012<br>ckniffin : 10/31/2012<br>carol : 10/3/2012<br>wwang : 2/5/2010<br>ckniffin : 1/25/2010<br>wwang : 12/2/2008<br>ckniffin : 11/26/2008<br>alopez : 10/27/2006
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<h3>
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<span class="mim-font">
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<strong>*</strong> 610531
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<h3>
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<span class="mim-font">
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HYCCIN, PI4KA LIPID KINASE COMPLEX, SUBUNIT 1; HYCC1
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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FAMILY WITH SEQUENCE SIMILARITY 126, MEMBER A; FAM126A<br />
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DOWNREGULATED BY CTNNB1, PROTEIN A; DRCTNNB1A<br />
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HYCCIN
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: HYCC1</em></strong>
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</span>
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</p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 702379005;
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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: 7p15.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:22,895,843-23,014,130 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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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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Inheritance
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Phenotype <br /> mapping key
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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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7p15.3
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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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Leukodystrophy, hypomyelinating, 5
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</td>
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<td>
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<span class="mim-font">
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610532
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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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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kawasoe et al. (2000) identified FAM126A, which they called DRCTNNB1A, as a 521-amino acid protein whose expression was downregulated by beta-catenin (116806). Zara et al. (2006), who referred to the protein as hyccin, noted the presence of putative orthologs in different species. RNA blot analysis showed that DRCTNNB1A is expressed in several adult tissues including heart, kidney, and placenta, and is ubiquitously expressed in brain. Using RT-PCR, Zara et al. (2006) showed that DRCTNNB1A is expressed in the lens. </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>Kawasoe et al. (2000) mapped the FAM126A gene to chromosome 7p15.3 by FISH. </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>The process of myelination occurs as an interplay between glial cells and neurons. The findings of Zara et al. (2006) indicated that hyccin is essential for proper myelination in both the central and peripheral nervous system. </p><p>By proteomic analysis in HeLa cells, Baskin et al. (2016) confirmed that TTC7B (620060), ERF3A (611798), and EFR3B (616797) were components of the PI4KIII-alpha (PI4KA; 600286) complex. They identified FAM126A or FAM126B (HYCC2) as additional components of the PI4KIII-alpha complex. TTC7B played a central role in bridging PI4KIII-alpha to EFR3B. Moreover, FAM126A bound directly to TTC7B through its N-terminal portion to form a heterodimer, and FAM126A-TTC7B bound to PI4KIII-alpha simultaneously to form a ternary complex. Interaction of PI4KIII-alpha with TTC7B and FAM126A appeared to stabilize the PI4KIII-alpha fold and stimulate catalytic activity. Moreover, FAM126A loss or reduction in mouse or human destabilized and degraded PI4KIII-alpha complex components and affected PI4KIII-alpha complex assembly and PI4KIII-alpha-mediated PtdIns4P synthesis at the plasma membrane. </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>Biochemical Features</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>Baskin et al. (2016) determined the crystal structure of TTC7B in complex with the N-terminal portion of FAM126A (FAM126A-N, residues 1 to 289) at 2.9-angstrom resolution. Both proteins were almost entirely alpha helical. TTC7B alpha helices were arranged into a superhelix, with the C-terminal peptide inserted into the center of the superhelix. In contrast, FAM126A-N was globular, except for a long hairpin (residues 121 to 165) that extended out and wrapped around TTC7B. The 2 proteins interacted to form a large interface conserved in metazoans, as well as a conserved binding surface for PI4KIII-alpha. The structural data supported the stabilizing function proposed for TTC7B and FAM126A in the PI4KIII-alpha complex. </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">
|
|
<p>By systematic screening of all 31 transcripts in a critical linkage region on 7p21.3-p15.3 identified in families with hypomyelinating leukodystrophy-5 (HLD5; 610532), which is associated with congenital cataract, Zara et al. (2006) detected 3 mutations in the DRCTNNB1A gene in 5 families. Two affected a splice site (610531.0001, 610531.0002) and the third was a missense mutation (610531.0003). Zara et al. (2006) concluded that their findings indicated the presence of a molecular link between cerebral and peripheral myelination disorders and congenital cataract. </p><p>Ugur and Tolun (2008) identified a homozygous intragenic deletion in the FAM126A gene (610531.0004) in affected members of a consanguineous Turkish family with hypomyelinating leukodystrophy and congenital cataracts. One patient developed cataracts at age 9 years. </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>
|
|
</span>
|
|
<strong>4 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
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<p />
|
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 LEUKODYSTROPHY, HYPOMYELINATING, 5</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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HYCC1, IVS2DS, G-A, +1
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<br />
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SNP: rs72549405,
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gnomAD: rs72549405,
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ClinVar: RCV000001273
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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 6 individuals in 3 families, Zara et al. (2006) demonstrated that hypomyelinating leukodystrophy-5 (HLD5; 610532) was associated with a splice site mutation in the FAM126A gene: IVS2+1G-A. One patient had lost the ability to walk with support at the age of 8 years and showed pyramidal and cerebellar signs as well as signs of peripheral neuropathy. An affected male in another family lost the ability to walk with support at the age of 9 years. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0002 LEUKODYSTROPHY, HYPOMYELINATING, 5</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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HYCC1, IVS5, G-T, +1
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<br />
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SNP: rs72549406,
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ClinVar: RCV000001274
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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 3 sibs with hypomyelination and congenital cataract (HLD5; 610532), Zara et al. (2006) observed a splice site mutation of the FAM126A gene: IVS5+1G-T. </p><p>Biancheri et al. (2011) identified homozygosity for the IVS5+1G-T mutation in 4 unrelated patients with HLD5 from the Mediterranean region. Haplotype analysis of 3 of these patients and the patient reported by Zara et al. (2006) suggested a founder effect. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0003 LEUKODYSTROPHY, HYPOMYELINATING, 5</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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HYCC1, LEU53PRO
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<br />
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SNP: rs72549407,
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gnomAD: rs72549407,
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ClinVar: RCV000001275
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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 patient with hypomyelination and congenital cataract (HLD5; 610532), Zara et al. (2006) observed a 158T-C transition in the FAM126A gene, predicted to cause a leu53-to-pro (L53P) amino acid change in the hyccin protein. A residual amount of hyccin protein was found in this patient, who manifested a relatively mild phenotype; this finding suggested a correlation between reduced protein level and phenotypic severity. </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 LEUKODYSTROPHY, HYPOMYELINATING, 5</strong>
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HYCC1, 4-KB DEL
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ClinVar: RCV000020928
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<p>In 3 patients from a consanguineous Turkish family with hypomyelinating leukodystrophy and congenital cataracts (HLD5; 610532), Ugur and Tolun (2008) identified a homozygous intragenic 4,084-bp deletion (531-439_743+348del) in the FAM126A gene, resulting in skipping of exon 8 and 9, frameshift at the beginning of exon 10, and premature termination at codon 214. The region of the deletion was flanked by an 82- and 83-bp direct repeat, suggesting that it resulted from unequal crossover. Clinical details of the 10-year-old male proband included congenital bilateral cataract, psychomotor regression beginning around 1 year of age, moderate mental retardation, and white matter changes in supratentorial structures and paraventricular regions. He also had a sensorimotor peripheral demyelinating neuropathy and never achieved walking. Two other affected individuals died at ages 2 and 12 years, respectively. One of the patients developed cataracts at age 9 years. </p>
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<strong>REFERENCES</strong>
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Baskin, J. M., Wu, X., Christiano, R., Oh, M. S., Schauder, C. M., Gazzerro, E., Messa, M., Baldassari, S., Assereto, S., Biancheri, R., Zara, F., Minetti, C., Raimondi, A., Simons, M., Walther, T. C., Reinisch, K. M., De Camilli, P.
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<strong>The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.</strong>
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Nat. Cell Biol. 18: 132-138, 2016.
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[PubMed: 26571211]
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[Full Text: https://doi.org/10.1038/ncb3271]
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Biancheri, R., Zara, F., Rossi, A., Mathot, M., Nassogne, M. C., Yalcinkaya, C., Erturk, O., Tuysuz, B., Di Rocco, M., Gazzerro, E., Bugiani, M., van Spaendonk, R., Sistermans, E. A., Minetti, C., van der Knaap, M. S., Wolf, N. I.
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<strong>Hypomyelination and congenital cataract: broadening the clinical phenotype.</strong>
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Arch. Neurol. 68: 1191-1194, 2011.
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[PubMed: 21911699]
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[Full Text: https://doi.org/10.1001/archneurol.2011.201]
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Kawasoe, T., Furukawa, Y., Daigo, Y., Nishiwaki, T., Ishiguro, H., Fujita, M., Satoh, S., Miwa, N., Nagasawa, Y., Miyoshi, Y., Ogawa, M., Nakamura, Y.
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<strong>Isolation and characterization of a novel human gene, DRCTNNB1A, the expression of which is down-regulated by beta-catenin.</strong>
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Cancer Res. 60: 3354-3358, 2000.
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[PubMed: 10910037]
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Ugur, S. A., Tolun, A.
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<strong>A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.</strong>
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Europ. J. Hum. Genet. 16: 261-264, 2008.
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[PubMed: 17928815]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201935]
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Zara, F., Biancheri, R., Bruno, C., Bordo, L., Assereto, S., Gazzerro, E., Sotgia, F., Wang, X. B., Gianotti, S., Stringara, S., Pedemonte, M., Uziel, G., Rossi, A., Schenone, A., Tortori-Donati, P., van der Knaap, M. S., Lisanti, M. P., Minetti, C.
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<strong>Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.</strong>
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Nature Genet. 38: 1111-1113, 2006.
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[PubMed: 16951682]
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[Full Text: https://doi.org/10.1038/ng1870]
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Bao Lige - updated : 08/07/2023<br>Cassandra L. Kniffin - updated : 10/31/2012<br>Cassandra L. Kniffin - updated : 1/25/2010
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Victor A. McKusick : 10/27/2006
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mgross : 08/07/2023<br>mgross : 09/28/2022<br>carol : 06/15/2017<br>carol : 09/24/2013<br>carol : 11/9/2012<br>ckniffin : 10/31/2012<br>carol : 10/3/2012<br>wwang : 2/5/2010<br>ckniffin : 1/25/2010<br>wwang : 12/2/2008<br>ckniffin : 11/26/2008<br>alopez : 10/27/2006
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