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Entry
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- *605379 - GIGAXONIN; GAN
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*605379</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/605379">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000261609;t=ENST00000648994" 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=8139" 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=605379" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000261609;t=ENST00000648994" 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_001377486,NM_022041" 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_022041" 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=605379" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=05647&isoform_id=05647_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/GAN" 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/11464740,11545731,13626745,27924087,119615941,193787832,308219368,957950429,957950432,1797095167" 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/Q9H2C0" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=8139" 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=ENSG00000261609;t=ENST00000648994" 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=GAN" 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=GAN" 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+8139" 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/GAN" 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:8139" 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/8139" 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=chr16&hgg_gene=ENST00000648994.2&hgg_start=81314962&hgg_end=81390809&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://search.clinicalgenome.org/kb/gene-dosage/HGNC:4137" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:4137" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/gan" 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=605379[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=605379[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/GAN/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000261609" 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=GAN" 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=GAN" 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=GAN" 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="http://www.molgen.ua.ac.be/CMTMutations/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=GAN&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/PA28550" 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:4137" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1890619" 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/GAN#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:1890619" 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/8139/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=8139" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-121221-1" 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=GAN&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
|
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605379
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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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GIGAXONIN; GAN
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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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GAN1
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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=GAN" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GAN</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/16/677?start=-3&limit=10&highlight=677">16q23.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:81314962-81390809&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'})">16:81,314,962-81,390,809</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/16/677?start=-3&limit=10&highlight=677">
|
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16q23.2
|
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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">
|
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Giant axonal neuropathy-1
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/256850"> 256850 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<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/605379" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/605379" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</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.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<p>GAN is an E3 ubiquitin ligase that positively controls SHH (<a href="/entry/600725">600725</a>) induction by controlling degradation of SHH-bound PTCH (PTCH1; <a href="/entry/601309">601309</a>) (<a href="#2" class="mim-tip-reference" title="Arribat, Y., Mysiak, K. S., Lescouzeres, L., Boizot, A., Ruiz, M., Rossel, M., Bomont, P. <strong>Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy.</strong> J. Clin. Invest. 129: 5312-5326, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31503551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31503551</a>] [<a href="https://doi.org/10.1172/JCI129788" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31503551">Arribat et al., 2019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31503551" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using a positional cloning approach in the critical region defined for giant axonal neuropathy (GAN; <a href="/entry/256850">256850</a>) on chromosome 16q24, <a href="#4" class="mim-tip-reference" title="Bomont, P., Cavalier, L., Blondeau, F., Ben Hamida, C., Belal, S., Tazir, M., Demir, E., Topaloglu, H., Korinthenberg, R., Tuysuz, B., Landrieu, P., Hentati, F., Koenig, M. <strong>The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.</strong> Nature Genet. 26: 370-374, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062483</a>] [<a href="https://doi.org/10.1038/81701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062483">Bomont et al. (2000)</a> isolated a novel, ubiquitously expressed gene (GAN) encoding a protein that they named gigaxonin. Gigaxonin contains an N-terminal BTB (broad-complex, tramtrack, and bric-a-brac) domain followed by 6 kelch repeats, which were predicted to adopt a beta-propeller shape. Distantly related proteins sharing a similar domain organization have various functions associated with the cytoskeleton, predicting that gigaxonin is a novel and distinct cytoskeletal protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11062483" 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="Arribat, Y., Mysiak, K. S., Lescouzeres, L., Boizot, A., Ruiz, M., Rossel, M., Bomont, P. <strong>Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy.</strong> J. Clin. Invest. 129: 5312-5326, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31503551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31503551</a>] [<a href="https://doi.org/10.1172/JCI129788" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31503551">Arribat et al. (2019)</a> cloned zebrafish gan, which encodes a 609-amino acid protein with an N-terminal BTB domain and a C-terminal 6-Kelch repeat domain. Zebrafish gan shares 78% amino acid identity with its human ortholog. In situ hybridization and RT-PCR analyses showed ubiquitous and constant expression of zebrafish gan from early embryogenesis through juvenile/adult stages, with enrichment in eye, notochord, muscle, and heart. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31503551" 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="#6" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 6/6/2014."None>Gross (2014)</a> mapped the GAN gene to chromosome 16q23.2 based on an alignment of the GAN sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC044840" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC044840</a>) with the genomic sequence (GRCh37).</p>
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<p><a href="#5" class="mim-tip-reference" title="Bomont, P., Koenig, M. <strong>Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization.</strong> Hum. Molec. Genet. 12: 813-822, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12668605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12668605</a>] [<a href="https://doi.org/10.1093/hmg/ddg092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12668605">Bomont and Koenig (2003)</a> showed that vimentin (VIM; <a href="/entry/193060">193060</a>) aggregation in primary fibroblasts from patients with giant axonal neuropathy demonstrated great variation on prolonged culture at confluence and in low serum conditions. While neither the microfilament nor the microtubule networks were perturbed by vimentin destabilization, the aggregates were in close proximity to the microtubule organizing centers. Microtubule depolymerization induced a total vimentin aggregation in GAN fibroblasts. <a href="#5" class="mim-tip-reference" title="Bomont, P., Koenig, M. <strong>Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization.</strong> Hum. Molec. Genet. 12: 813-822, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12668605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12668605</a>] [<a href="https://doi.org/10.1093/hmg/ddg092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12668605">Bomont and Koenig (2003)</a> proposed that gigaxonin may play an important role in the crosstalk between the cytoplasmic intermediate filament and microtubule networks. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12668605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Allen, E., Ding, J., Wang, W., Pramanik, S., Chou, J., Yau, V., Yang, Y. <strong>Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival.</strong> Nature 438: 224-228, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227972</a>] [<a href="https://doi.org/10.1038/nature04256" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16227972">Allen et al. (2005)</a> showed that gigaxonin controls protein degradation and is essential for neuronal function and survival. They presented evidence that gigaxonin binds to the ubiquitin-activating enzyme E1 (<a href="/entry/314370">314370</a>) through its amino-terminal BTB domain, while the carboxy-terminal kelch repeat domain interacts directly with the light chain (LC) of microtubule-associated protein-1B (MAP1B; <a href="/entry/157129">157129</a>). Overexpression of gigaxonin leads to enhanced degradation of MAP1B-LC, which could be antagonized by proteasome inhibitors. Ablation of gigaxonin caused a substantial accumulation of MAP1B-LC in GAN-null neurons. Moreover, <a href="#1" class="mim-tip-reference" title="Allen, E., Ding, J., Wang, W., Pramanik, S., Chou, J., Yau, V., Yang, Y. <strong>Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival.</strong> Nature 438: 224-228, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227972</a>] [<a href="https://doi.org/10.1038/nature04256" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16227972">Allen et al. (2005)</a> showed that overexpression of MAP1B in wildtype cortical neurons led to cell death characteristic of GAN-null neurons, whereas reducing MAP1B levels significantly improved the survival rate of null neurons. <a href="#1" class="mim-tip-reference" title="Allen, E., Ding, J., Wang, W., Pramanik, S., Chou, J., Yau, V., Yang, Y. <strong>Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival.</strong> Nature 438: 224-228, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227972</a>] [<a href="https://doi.org/10.1038/nature04256" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16227972">Allen et al. (2005)</a> concluded that their results identified gigaxonin as a ubiquitin scaffolding protein that controls MAP1B-light chain degradation and provided insight into the molecular mechanisms underlying human neurodegenerative disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16227972" 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>Giant axonal neuropathy, a severe autosomal recessive sensorineural neuropathy affecting both the peripheral nerves and the central nervous system, is characterized by neurofilament accumulation, leading to segmental distention of axons. The neuropathy is part of a generalized disorganization of the cytoskeletal intermediate filaments (IFs), to which neurofilaments belong, as abnormal aggregation of multiple tissue-specific IFs has been reported in this disorder. In patients with giant axonal neuropathy, <a href="#4" class="mim-tip-reference" title="Bomont, P., Cavalier, L., Blondeau, F., Ben Hamida, C., Belal, S., Tazir, M., Demir, E., Topaloglu, H., Korinthenberg, R., Tuysuz, B., Landrieu, P., Hentati, F., Koenig, M. <strong>The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.</strong> Nature Genet. 26: 370-374, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062483</a>] [<a href="https://doi.org/10.1038/81701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062483">Bomont et al. (2000)</a> identified missense, nonsense, and frameshift mutations in the GAN gene (see, e.g., <a href="#0001">605379.0001</a>-<a href="#0003">605379.0003</a>). <a href="#4" class="mim-tip-reference" title="Bomont, P., Cavalier, L., Blondeau, F., Ben Hamida, C., Belal, S., Tazir, M., Demir, E., Topaloglu, H., Korinthenberg, R., Tuysuz, B., Landrieu, P., Hentati, F., Koenig, M. <strong>The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.</strong> Nature Genet. 26: 370-374, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062483</a>] [<a href="https://doi.org/10.1038/81701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062483">Bomont et al. (2000)</a> suggested that GAN may represent a general pathologic target for other neurodegenerative disorders with alterations in the neurofilament network. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11062483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Arribat, Y., Mysiak, K. S., Lescouzeres, L., Boizot, A., Ruiz, M., Rossel, M., Bomont, P. <strong>Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy.</strong> J. Clin. Invest. 129: 5312-5326, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31503551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31503551</a>] [<a href="https://doi.org/10.1172/JCI129788" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31503551">Arribat et al. (2019)</a> found that gan controlled differentiation of secondary motor neurons and axonal pathfinding of primary motor neurons in spinal cord and promoted muscle innervation and somitogenesis in zebrafish. Similar to shh repression, gan depletion in zebrafish caused severe morphologic abnormalities with impaired motility, and gan deletion recapitulated this phenotype. Shh activation restored both neuronal and muscle development deficits in gan-depleted zebrafish. In human, mouse, and zebrafish systems, SHH signaling failed to activate properly in the absence of GAN, demonstrating that GAN functions as a positive regulator of the SHH pathway. Further analysis in mouse cells demonstrated that Gan acted positively on the Shh pathway through interaction with Ptch and targeting Ptch for degradation in an Shh-dependent manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31503551" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs119485088 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119485088;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/rs119485088?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=rs119485088" 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=rs119485088" 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=RCV000005333 OR RCV002390092" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005333, RCV002390092" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005333...</a>
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<p><a href="#4" class="mim-tip-reference" title="Bomont, P., Cavalier, L., Blondeau, F., Ben Hamida, C., Belal, S., Tazir, M., Demir, E., Topaloglu, H., Korinthenberg, R., Tuysuz, B., Landrieu, P., Hentati, F., Koenig, M. <strong>The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.</strong> Nature Genet. 26: 370-374, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062483</a>] [<a href="https://doi.org/10.1038/81701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062483">Bomont et al. (2000)</a> found a glu486-to-lys (E486K) mutation of the GAN gene associated with giant axonal neuropathy (GAN1; <a href="/entry/256850">256850</a>) in a Tunisian and a northern French family. They concluded that these corresponded to distinct mutational events because the mutation affected a CpG dinucleotide (CG to CA) and the associated haplotypes were different. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11062483" 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 GIANT AXONAL NEUROPATHY 1</strong>
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GAN, GLN483TER
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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> rs119485089 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119485089;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/rs119485089?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=rs119485089" 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=rs119485089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000005334" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005334" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005334</a>
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<p><a href="#4" class="mim-tip-reference" title="Bomont, P., Cavalier, L., Blondeau, F., Ben Hamida, C., Belal, S., Tazir, M., Demir, E., Topaloglu, H., Korinthenberg, R., Tuysuz, B., Landrieu, P., Hentati, F., Koenig, M. <strong>The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.</strong> Nature Genet. 26: 370-374, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062483</a>] [<a href="https://doi.org/10.1038/81701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062483">Bomont et al. (2000)</a> found that affected members of a family with giant axonal neuropathy (GAN1; <a href="/entry/256850">256850</a>) were homozygous for a nonsense mutation (gln483 to ter; Q483X) in the GAN gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11062483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0003" class="mim-anchor"></a>
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<strong>.0003 GIANT AXONAL NEUROPATHY 1</strong>
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GAN, 1-BP INS, 18A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1597385624 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1597385624;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=rs1597385624" 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=rs1597385624" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000789761" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000789761" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000789761</a>
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</span>
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<p><a href="#4" class="mim-tip-reference" title="Bomont, P., Cavalier, L., Blondeau, F., Ben Hamida, C., Belal, S., Tazir, M., Demir, E., Topaloglu, H., Korinthenberg, R., Tuysuz, B., Landrieu, P., Hentati, F., Koenig, M. <strong>The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.</strong> Nature Genet. 26: 370-374, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062483</a>] [<a href="https://doi.org/10.1038/81701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062483">Bomont et al. (2000)</a> found that affected members of a family with giant axonal neuropathy (GAN1; <a href="/entry/256850">256850</a>) were homozygous for a frameshift (18insA) mutation in the GAN gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11062483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 GIANT AXONAL NEUROPATHY 1</strong>
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</h4>
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GAN, ARG201TER
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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> rs119485090 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119485090;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/rs119485090?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=rs119485090" 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=rs119485090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000005336" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005336" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005336</a>
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<p>In a young patient with giant axonal neuropathy (GAN1; <a href="/entry/256850">256850</a>) diagnosed clinically by characteristic features of peripheral and central nervous system abnormalities and hair findings, <a href="#7" class="mim-tip-reference" title="Kuhlenbaumer, G., Young, P., Oberwittler, C., Hunermund, G., Schirmacher, A., Domschke, K., Ringelstein, B., Stogbauer, F. <strong>Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.</strong> Neurology 58: 1273-1276, 2002. Note: Erratum: Neurology 58: 1444, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11971098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11971098</a>] [<a href="https://doi.org/10.1212/wnl.58.8.1273" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11971098">Kuhlenbaumer et al. (2002)</a> identified compound heterozygosity for mutations in the GAN gene: a 601C-T mutation resulting in an arg201-to-ter (R201X) substitution and a 1238C-T mutation in exon 8 resulting in an ile423-to-thr (I423T; <a href="#0005">605379.0005</a>) substitution. The patient's asymptomatic father was heterozygous for the R201X mutation, and his asymptomatic mother was heterozygous for the I423T mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11971098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 GIANT AXONAL NEUROPATHY 1</strong>
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</span>
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</h4>
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GAN, ILE423THR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs119485091 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119485091;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=rs119485091" 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=rs119485091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000005337" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005337" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005337</a>
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<p>For discussion of the ile423-to-thr (I423T) mutation in the GAN gene that was found in compound heterozygous state in a patient with giant axonal neuropathy (GAN1; <a href="/entry/256850">256850</a>) by <a href="#7" class="mim-tip-reference" title="Kuhlenbaumer, G., Young, P., Oberwittler, C., Hunermund, G., Schirmacher, A., Domschke, K., Ringelstein, B., Stogbauer, F. <strong>Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.</strong> Neurology 58: 1273-1276, 2002. Note: Erratum: Neurology 58: 1444, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11971098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11971098</a>] [<a href="https://doi.org/10.1212/wnl.58.8.1273" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11971098">Kuhlenbaumer et al. (2002)</a>, see <a href="#0004">605379.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11971098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 GIANT AXONAL NEUROPATHY 1</strong>
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</span>
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</h4>
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GAN, ARG138HIS
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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> rs119485092 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119485092;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/rs119485092?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=rs119485092" 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=rs119485092" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000005338" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005338" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005338</a>
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</span>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a consanguineous Algerian family with giant axonal neuropathy (GAN1; <a href="/entry/256850">256850</a>) described by <a href="#9" class="mim-tip-reference" title="Zemmouri, R., Azzedine, H., Assami, S., Kitouni, N., Vallat, J. M., Maisonobe, T., Hamadouche, T., Kessaci, M., Mansouri, B., Le Guern, E., Grid, D., Tazir, M. <strong>Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy.</strong> Neuromusc. Disord. 10: 592-598, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11053687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11053687</a>] [<a href="https://doi.org/10.1016/s0960-8966(00)00141-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11053687">Zemmouri et al. (2000)</a>, <a href="#4" class="mim-tip-reference" title="Bomont, P., Cavalier, L., Blondeau, F., Ben Hamida, C., Belal, S., Tazir, M., Demir, E., Topaloglu, H., Korinthenberg, R., Tuysuz, B., Landrieu, P., Hentati, F., Koenig, M. <strong>The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.</strong> Nature Genet. 26: 370-374, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062483</a>] [<a href="https://doi.org/10.1038/81701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062483">Bomont et al. (2000)</a> identified a homozygous 413G-A transition in exon 3 of the GAN gene, resulting in an arg138-to-his (R138H) substitution. None of the patients had hair abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11053687+11062483" 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>.0007 GIANT AXONAL NEUROPATHY 1</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">rs119485093 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119485093;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=rs119485093" 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=rs119485093" 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=RCV000005339" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005339" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005339</a>
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<p>In affected members of a consanguineous Tunisian family with giant axonal neuropathy (GAN1; <a href="/entry/256850">256850</a>) described by <a href="#3" class="mim-tip-reference" title="Ben Hamida, M., Hentati, F., Ben Hamida, C. <strong>Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred.</strong> Neurology 40: 245-250, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2153943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2153943</a>] [<a href="https://doi.org/10.1212/wnl.40.2.245" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2153943">Ben Hamida et al. (1990)</a>, <a href="#4" class="mim-tip-reference" title="Bomont, P., Cavalier, L., Blondeau, F., Ben Hamida, C., Belal, S., Tazir, M., Demir, E., Topaloglu, H., Korinthenberg, R., Tuysuz, B., Landrieu, P., Hentati, F., Koenig, M. <strong>The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.</strong> Nature Genet. 26: 370-374, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062483</a>] [<a href="https://doi.org/10.1038/81701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062483">Bomont et al. (2000)</a> identified a homozygous 43C-A transversion in exon 1 of the GAN gene, resulting in an arg15-to-ser (R15S) substitution in the BTB domain of the protein. The clinical presentation in this family was slightly unusual in that there were no hair abnormalities and the proband had a severe sensorimotor neuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2153943+11062483" 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>.0008 GIANT AXONAL NEUROPATHY 1</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">rs119485094 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119485094;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=rs119485094" 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=rs119485094" 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=RCV000005340" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005340" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005340</a>
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<p>In affected members of 4 unrelated consanguineous Algerian families with giant axonal neuropathy (GAN1; <a href="/entry/256850">256850</a>), <a href="#8" class="mim-tip-reference" title="Tazir, M., Nouioua, S., Magy, L., Huehne, K., Assami, S., Urtizberea, A., Grid, D., Hamadouche, T., Rautenstrauss, B., Vallat, J.-M. <strong>Phenotypic variability in giant axonal neuropathy.</strong> Neuromusc. Disord. 19: 270-274, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19231187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19231187</a>] [<a href="https://doi.org/10.1016/j.nmd.2009.01.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19231187">Tazir et al. (2009)</a> identified a homozygous 1429C-T transition in exon 9 of the GAN gene, resulting in an arg477-to-ter (R477X) substitution in the C terminus in 1 of the Kelch domains. The phenotype was variable. Patients from 2 families had the classic phenotype with kinky red hair, cerebellar ataxia, and peripheral motor and sensory neuropathy. A patient from another family had frizzy hair, spastic paraparesis with Babinski sign, facial diplegia, and minor clinical signs of neuropathy and cerebellar ataxia. The patient from the fourth family had a congenital neuropathy with mental retardation and a rapid and severe progression, but without abnormal hair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19231187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<strong>.0009 GIANT AXONAL NEUROPATHY 1</strong>
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GAN, GLU169LYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs119485095 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119485095;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=rs119485095" 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=rs119485095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000005341" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005341" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005341</a>
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<p>In a boy, born of consanguineous Algerian parents, with giant axonal neuropathy (GAN1; <a href="/entry/256850">256850</a>), <a href="#8" class="mim-tip-reference" title="Tazir, M., Nouioua, S., Magy, L., Huehne, K., Assami, S., Urtizberea, A., Grid, D., Hamadouche, T., Rautenstrauss, B., Vallat, J.-M. <strong>Phenotypic variability in giant axonal neuropathy.</strong> Neuromusc. Disord. 19: 270-274, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19231187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19231187</a>] [<a href="https://doi.org/10.1016/j.nmd.2009.01.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19231187">Tazir et al. (2009)</a> identified a homozygous 505G-A transition in exon 3 of the GAN gene, resulting in a glu169-to-lys (E169K) substitution in an interdomain region between the BTB and Kelch domains. The boy had onset at age 3 years of weakness of the face and distal and proximal limbs. He also had short stature, foot and hand deformities, scoliosis, and sensory impairment. Mental retardation, spasticity, and kinky hair were not observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19231187" 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>REFERENCES</strong>
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Allen, E., Ding, J., Wang, W., Pramanik, S., Chou, J., Yau, V., Yang, Y.
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<strong>Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival.</strong>
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Nature 438: 224-228, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227972</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16227972" 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/nature04256" target="_blank">Full Text</a>]
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Arribat, Y., Mysiak, K. S., Lescouzeres, L., Boizot, A., Ruiz, M., Rossel, M., Bomont, P.
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<strong>Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy.</strong>
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J. Clin. Invest. 129: 5312-5326, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31503551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31503551</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31503551" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI129788" target="_blank">Full Text</a>]
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Ben Hamida, M., Hentati, F., Ben Hamida, C.
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<strong>Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred.</strong>
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Neurology 40: 245-250, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2153943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2153943</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2153943" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bomont, P., Cavalier, L., Blondeau, F., Ben Hamida, C., Belal, S., Tazir, M., Demir, E., Topaloglu, H., Korinthenberg, R., Tuysuz, B., Landrieu, P., Hentati, F., Koenig, M.
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<strong>The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.</strong>
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Nature Genet. 26: 370-374, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062483</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11062483" 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/10.1038/81701" target="_blank">Full Text</a>]
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Bomont, P., Koenig, M.
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<strong>Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization.</strong>
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Hum. Molec. Genet. 12: 813-822, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12668605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12668605</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12668605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddg092" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Gross2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 6/6/2014.
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Kuhlenbaumer2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kuhlenbaumer, G., Young, P., Oberwittler, C., Hunermund, G., Schirmacher, A., Domschke, K., Ringelstein, B., Stogbauer, F.
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|
<strong>Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.</strong>
|
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Neurology 58: 1273-1276, 2002. Note: Erratum: Neurology 58: 1444, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11971098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11971098</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11971098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.58.8.1273" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Tazir2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tazir, M., Nouioua, S., Magy, L., Huehne, K., Assami, S., Urtizberea, A., Grid, D., Hamadouche, T., Rautenstrauss, B., Vallat, J.-M.
|
|
<strong>Phenotypic variability in giant axonal neuropathy.</strong>
|
|
Neuromusc. Disord. 19: 270-274, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19231187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19231187</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19231187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.nmd.2009.01.011" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Zemmouri2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zemmouri, R., Azzedine, H., Assami, S., Kitouni, N., Vallat, J. M., Maisonobe, T., Hamadouche, T., Kessaci, M., Mansouri, B., Le Guern, E., Grid, D., Tazir, M.
|
|
<strong>Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy.</strong>
|
|
Neuromusc. Disord. 10: 592-598, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11053687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11053687</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11053687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0960-8966(00)00141-3" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 04/20/2020
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 6/6/2014<br>Cassandra L. Kniffin - updated : 11/3/2009<br>Cassandra L. Kniffin - updated : 5/8/2006<br>Ada Hamosh - updated : 11/21/2005<br>George E. Tiller - updated : 3/4/2005<br>Cassandra L. Kniffin - updated : 6/11/2002
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 10/31/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<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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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 05/05/2020
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 04/20/2020<br>carol : 08/16/2019<br>carol : 09/28/2015<br>mcolton : 8/18/2015<br>mgross : 6/6/2014<br>wwang : 11/19/2009<br>ckniffin : 11/3/2009<br>carol : 5/12/2006<br>ckniffin : 5/8/2006<br>alopez : 11/22/2005<br>terry : 11/21/2005<br>carol : 3/4/2005<br>carol : 3/4/2005<br>carol : 6/17/2002<br>carol : 6/17/2002<br>ckniffin : 6/11/2002<br>terry : 3/20/2001<br>alopez : 10/31/2000
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 605379
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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GIGAXONIN; GAN
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<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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GAN1
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GAN</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 16q23.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:81,314,962-81,390,809 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
|
Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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16q23.2
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Giant axonal neuropathy-1
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
256850
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>GAN is an E3 ubiquitin ligase that positively controls SHH (600725) induction by controlling degradation of SHH-bound PTCH (PTCH1; 601309) (Arribat et al., 2019). </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using a positional cloning approach in the critical region defined for giant axonal neuropathy (GAN; 256850) on chromosome 16q24, Bomont et al. (2000) isolated a novel, ubiquitously expressed gene (GAN) encoding a protein that they named gigaxonin. Gigaxonin contains an N-terminal BTB (broad-complex, tramtrack, and bric-a-brac) domain followed by 6 kelch repeats, which were predicted to adopt a beta-propeller shape. Distantly related proteins sharing a similar domain organization have various functions associated with the cytoskeleton, predicting that gigaxonin is a novel and distinct cytoskeletal protein. </p><p>Arribat et al. (2019) cloned zebrafish gan, which encodes a 609-amino acid protein with an N-terminal BTB domain and a C-terminal 6-Kelch repeat domain. Zebrafish gan shares 78% amino acid identity with its human ortholog. In situ hybridization and RT-PCR analyses showed ubiquitous and constant expression of zebrafish gan from early embryogenesis through juvenile/adult stages, with enrichment in eye, notochord, muscle, and heart. </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>Gross (2014) mapped the GAN gene to chromosome 16q23.2 based on an alignment of the GAN sequence (GenBank BC044840) with the genomic sequence (GRCh37).</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>Bomont and Koenig (2003) showed that vimentin (VIM; 193060) aggregation in primary fibroblasts from patients with giant axonal neuropathy demonstrated great variation on prolonged culture at confluence and in low serum conditions. While neither the microfilament nor the microtubule networks were perturbed by vimentin destabilization, the aggregates were in close proximity to the microtubule organizing centers. Microtubule depolymerization induced a total vimentin aggregation in GAN fibroblasts. Bomont and Koenig (2003) proposed that gigaxonin may play an important role in the crosstalk between the cytoplasmic intermediate filament and microtubule networks. </p><p>Allen et al. (2005) showed that gigaxonin controls protein degradation and is essential for neuronal function and survival. They presented evidence that gigaxonin binds to the ubiquitin-activating enzyme E1 (314370) through its amino-terminal BTB domain, while the carboxy-terminal kelch repeat domain interacts directly with the light chain (LC) of microtubule-associated protein-1B (MAP1B; 157129). Overexpression of gigaxonin leads to enhanced degradation of MAP1B-LC, which could be antagonized by proteasome inhibitors. Ablation of gigaxonin caused a substantial accumulation of MAP1B-LC in GAN-null neurons. Moreover, Allen et al. (2005) showed that overexpression of MAP1B in wildtype cortical neurons led to cell death characteristic of GAN-null neurons, whereas reducing MAP1B levels significantly improved the survival rate of null neurons. Allen et al. (2005) concluded that their results identified gigaxonin as a ubiquitin scaffolding protein that controls MAP1B-light chain degradation and provided insight into the molecular mechanisms underlying human neurodegenerative disorders. </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>Giant axonal neuropathy, a severe autosomal recessive sensorineural neuropathy affecting both the peripheral nerves and the central nervous system, is characterized by neurofilament accumulation, leading to segmental distention of axons. The neuropathy is part of a generalized disorganization of the cytoskeletal intermediate filaments (IFs), to which neurofilaments belong, as abnormal aggregation of multiple tissue-specific IFs has been reported in this disorder. In patients with giant axonal neuropathy, Bomont et al. (2000) identified missense, nonsense, and frameshift mutations in the GAN gene (see, e.g., 605379.0001-605379.0003). Bomont et al. (2000) suggested that GAN may represent a general pathologic target for other neurodegenerative disorders with alterations in the neurofilament network. </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>Animal Model</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Arribat et al. (2019) found that gan controlled differentiation of secondary motor neurons and axonal pathfinding of primary motor neurons in spinal cord and promoted muscle innervation and somitogenesis in zebrafish. Similar to shh repression, gan depletion in zebrafish caused severe morphologic abnormalities with impaired motility, and gan deletion recapitulated this phenotype. Shh activation restored both neuronal and muscle development deficits in gan-depleted zebrafish. In human, mouse, and zebrafish systems, SHH signaling failed to activate properly in the absence of GAN, demonstrating that GAN functions as a positive regulator of the SHH pathway. Further analysis in mouse cells demonstrated that Gan acted positively on the Shh pathway through interaction with Ptch and targeting Ptch for degradation in an Shh-dependent manner. </p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
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<strong>9 Selected Examples):</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
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<p />
|
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 GIANT AXONAL NEUROPATHY 1</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
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<div>
|
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<span class="mim-text-font">
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GAN, GLU486LYS
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<br />
|
|
|
|
SNP: rs119485088,
|
|
|
|
|
|
gnomAD: rs119485088,
|
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|
|
|
ClinVar: RCV000005333, RCV002390092
|
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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>Bomont et al. (2000) found a glu486-to-lys (E486K) mutation of the GAN gene associated with giant axonal neuropathy (GAN1; 256850) in a Tunisian and a northern French family. They concluded that these corresponded to distinct mutational events because the mutation affected a CpG dinucleotide (CG to CA) and the associated haplotypes were different. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0002 GIANT AXONAL NEUROPATHY 1</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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GAN, GLN483TER
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<br />
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SNP: rs119485089,
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gnomAD: rs119485089,
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ClinVar: RCV000005334
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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>Bomont et al. (2000) found that affected members of a family with giant axonal neuropathy (GAN1; 256850) were homozygous for a nonsense mutation (gln483 to ter; Q483X) in the GAN gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0003 GIANT AXONAL NEUROPATHY 1</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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GAN, 1-BP INS, 18A
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<br />
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SNP: rs1597385624,
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ClinVar: RCV000789761
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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>Bomont et al. (2000) found that affected members of a family with giant axonal neuropathy (GAN1; 256850) were homozygous for a frameshift (18insA) mutation in the GAN gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 GIANT AXONAL NEUROPATHY 1</strong>
|
|
</span>
|
|
</h4>
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</div>
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<div>
|
|
<span class="mim-text-font">
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GAN, ARG201TER
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<br />
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SNP: rs119485090,
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gnomAD: rs119485090,
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ClinVar: RCV000005336
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a young patient with giant axonal neuropathy (GAN1; 256850) diagnosed clinically by characteristic features of peripheral and central nervous system abnormalities and hair findings, Kuhlenbaumer et al. (2002) identified compound heterozygosity for mutations in the GAN gene: a 601C-T mutation resulting in an arg201-to-ter (R201X) substitution and a 1238C-T mutation in exon 8 resulting in an ile423-to-thr (I423T; 605379.0005) substitution. The patient's asymptomatic father was heterozygous for the R201X mutation, and his asymptomatic mother was heterozygous for the I423T mutation. </p>
|
|
</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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 GIANT AXONAL NEUROPATHY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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GAN, ILE423THR
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<br />
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|
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SNP: rs119485091,
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|
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ClinVar: RCV000005337
|
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|
</span>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>For discussion of the ile423-to-thr (I423T) mutation in the GAN gene that was found in compound heterozygous state in a patient with giant axonal neuropathy (GAN1; 256850) by Kuhlenbaumer et al. (2002), see 605379.0004. </p>
|
|
</span>
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|
</div>
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 GIANT AXONAL NEUROPATHY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
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|
|
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GAN, ARG138HIS
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|
<br />
|
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|
|
SNP: rs119485092,
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|
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gnomAD: rs119485092,
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|
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ClinVar: RCV000005338
|
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous Algerian family with giant axonal neuropathy (GAN1; 256850) described by Zemmouri et al. (2000), Bomont et al. (2000) identified a homozygous 413G-A transition in exon 3 of the GAN gene, resulting in an arg138-to-his (R138H) substitution. None of the patients had hair abnormalities. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 GIANT AXONAL NEUROPATHY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
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|
GAN, ARG15SER
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|
<br />
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|
|
SNP: rs119485093,
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|
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|
|
|
|
|
ClinVar: RCV000005339
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous Tunisian family with giant axonal neuropathy (GAN1; 256850) described by Ben Hamida et al. (1990), Bomont et al. (2000) identified a homozygous 43C-A transversion in exon 1 of the GAN gene, resulting in an arg15-to-ser (R15S) substitution in the BTB domain of the protein. The clinical presentation in this family was slightly unusual in that there were no hair abnormalities and the proband had a severe sensorimotor neuropathy. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 GIANT AXONAL NEUROPATHY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GAN, ARG477TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs119485094,
|
|
|
|
|
|
|
|
ClinVar: RCV000005340
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 4 unrelated consanguineous Algerian families with giant axonal neuropathy (GAN1; 256850), Tazir et al. (2009) identified a homozygous 1429C-T transition in exon 9 of the GAN gene, resulting in an arg477-to-ter (R477X) substitution in the C terminus in 1 of the Kelch domains. The phenotype was variable. Patients from 2 families had the classic phenotype with kinky red hair, cerebellar ataxia, and peripheral motor and sensory neuropathy. A patient from another family had frizzy hair, spastic paraparesis with Babinski sign, facial diplegia, and minor clinical signs of neuropathy and cerebellar ataxia. The patient from the fourth family had a congenital neuropathy with mental retardation and a rapid and severe progression, but without abnormal hair. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 GIANT AXONAL NEUROPATHY 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GAN, GLU169LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs119485095,
|
|
|
|
|
|
|
|
ClinVar: RCV000005341
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy, born of consanguineous Algerian parents, with giant axonal neuropathy (GAN1; 256850), Tazir et al. (2009) identified a homozygous 505G-A transition in exon 3 of the GAN gene, resulting in a glu169-to-lys (E169K) substitution in an interdomain region between the BTB and Kelch domains. The boy had onset at age 3 years of weakness of the face and distal and proximal limbs. He also had short stature, foot and hand deformities, scoliosis, and sensory impairment. Mental retardation, spasticity, and kinky hair were not observed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
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|
|
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Allen, E., Ding, J., Wang, W., Pramanik, S., Chou, J., Yau, V., Yang, Y.
|
|
<strong>Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival.</strong>
|
|
Nature 438: 224-228, 2005.
|
|
|
|
|
|
[PubMed: 16227972]
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|
|
[Full Text: https://doi.org/10.1038/nature04256]
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Arribat, Y., Mysiak, K. S., Lescouzeres, L., Boizot, A., Ruiz, M., Rossel, M., Bomont, P.
|
|
<strong>Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy.</strong>
|
|
J. Clin. Invest. 129: 5312-5326, 2019.
|
|
|
|
|
|
[PubMed: 31503551]
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|
|
[Full Text: https://doi.org/10.1172/JCI129788]
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|
|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ben Hamida, M., Hentati, F., Ben Hamida, C.
|
|
<strong>Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred.</strong>
|
|
Neurology 40: 245-250, 1990.
|
|
|
|
|
|
[PubMed: 2153943]
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|
|
[Full Text: https://doi.org/10.1212/wnl.40.2.245]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Bomont, P., Cavalier, L., Blondeau, F., Ben Hamida, C., Belal, S., Tazir, M., Demir, E., Topaloglu, H., Korinthenberg, R., Tuysuz, B., Landrieu, P., Hentati, F., Koenig, M.
|
|
<strong>The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.</strong>
|
|
Nature Genet. 26: 370-374, 2000.
|
|
|
|
|
|
[PubMed: 11062483]
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|
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|
|
[Full Text: https://doi.org/10.1038/81701]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bomont, P., Koenig, M.
|
|
<strong>Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization.</strong>
|
|
Hum. Molec. Genet. 12: 813-822, 2003.
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|
|
|
|
|
[PubMed: 12668605]
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[Full Text: https://doi.org/10.1093/hmg/ddg092]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Gross, M. B.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 6/6/2014.
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|
|
</p>
|
|
</li>
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Kuhlenbaumer, G., Young, P., Oberwittler, C., Hunermund, G., Schirmacher, A., Domschke, K., Ringelstein, B., Stogbauer, F.
|
|
<strong>Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.</strong>
|
|
Neurology 58: 1273-1276, 2002. Note: Erratum: Neurology 58: 1444, 2002.
|
|
|
|
|
|
[PubMed: 11971098]
|
|
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|
|
[Full Text: https://doi.org/10.1212/wnl.58.8.1273]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Tazir, M., Nouioua, S., Magy, L., Huehne, K., Assami, S., Urtizberea, A., Grid, D., Hamadouche, T., Rautenstrauss, B., Vallat, J.-M.
|
|
<strong>Phenotypic variability in giant axonal neuropathy.</strong>
|
|
Neuromusc. Disord. 19: 270-274, 2009.
|
|
|
|
|
|
[PubMed: 19231187]
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|
|
[Full Text: https://doi.org/10.1016/j.nmd.2009.01.011]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Zemmouri, R., Azzedine, H., Assami, S., Kitouni, N., Vallat, J. M., Maisonobe, T., Hamadouche, T., Kessaci, M., Mansouri, B., Le Guern, E., Grid, D., Tazir, M.
|
|
<strong>Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy.</strong>
|
|
Neuromusc. Disord. 10: 592-598, 2000.
|
|
|
|
|
|
[PubMed: 11053687]
|
|
|
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|
|
[Full Text: https://doi.org/10.1016/s0960-8966(00)00141-3]
|
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|
</p>
|
|
</li>
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</ol>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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</div>
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Bao Lige - updated : 04/20/2020<br>Matthew B. Gross - updated : 6/6/2014<br>Cassandra L. Kniffin - updated : 11/3/2009<br>Cassandra L. Kniffin - updated : 5/8/2006<br>Ada Hamosh - updated : 11/21/2005<br>George E. Tiller - updated : 3/4/2005<br>Cassandra L. Kniffin - updated : 6/11/2002
|
|
</span>
|
|
</div>
|
|
</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 class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
|
</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Victor A. McKusick : 10/31/2000
|
|
</span>
|
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Edit History:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 05/05/2020<br>mgross : 04/20/2020<br>carol : 08/16/2019<br>carol : 09/28/2015<br>mcolton : 8/18/2015<br>mgross : 6/6/2014<br>wwang : 11/19/2009<br>ckniffin : 11/3/2009<br>carol : 5/12/2006<br>ckniffin : 5/8/2006<br>alopez : 11/22/2005<br>terry : 11/21/2005<br>carol : 3/4/2005<br>carol : 3/4/2005<br>carol : 6/17/2002<br>carol : 6/17/2002<br>ckniffin : 6/11/2002<br>terry : 3/20/2001<br>alopez : 10/31/2000
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