3760 lines
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Entry
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- *613109 - GM2 ACTIVATOR; GM2A
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- OMIM
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<p>
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<span class="h4">*613109</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/613109">Table View</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div 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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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000196743;t=ENST00000357164" 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=2760" 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=613109" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000196743;t=ENST00000357164" 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_000405,NM_001167607" 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_000405" 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=613109" 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="small">
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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=02034&isoform_id=02034_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/GM2A" 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/31853,31855,31857,183357,183359,673415,673416,4587479,7549212,14424507,39995109,119582084,119582085,160331912,189065557,194385162,263190474" 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/P17900" 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=2760" 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=ENSG00000196743;t=ENST00000357164" 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=GM2A" 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=GM2A" 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+2760" 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/GM2A" 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:2760" 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/2760" 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=chr5&hgg_gene=ENST00000357164.4&hgg_start=151253185&hgg_end=151270440&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:4367" 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/gm2a" 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=613109[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=613109[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000196743" 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=GM2A" 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=GM2A" 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=GM2A" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=GM2A&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/PA28752" 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:4367" 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:95762" 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/GM2A#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:95762" 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/2760/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://omia.org/OMIA001427/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=2760" 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-050417-373" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2760" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=GM2A&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 71253000<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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613109
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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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GM2 ACTIVATOR; GM2A
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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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=GM2A" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GM2A</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/5/683?start=-3&limit=10&highlight=683">5q33.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr5:151253185-151270440&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'})">5:151,253,185-151,270,440</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/5/683?start=-3&limit=10&highlight=683">
|
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5q33.1
|
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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GM2-gangliosidosis, AB variant
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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/272750"> 272750 </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>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/613109" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613109" 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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<span class="mim-font">
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<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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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The GM2 activator is a low molecular weight, soluble protein that binds to the GM2 ganglioside, extracts it from the membrane, and solubilizes it as an activator/lipid complex which forms the substrate for the GM2 degradation by beta-hexosaminidase A (<a href="#9" class="mim-tip-reference" title="Klima, H., Tanaka, A., Schnabel, D., Nakano, T., Schroder, M., Suzuki, K., Sandhoff, K. <strong>Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein.</strong> FEBS Lett. 289: 260-264, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1915857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1915857</a>] [<a href="https://doi.org/10.1016/0014-5793(91)81084-l" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1915857">Klima et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1915857" 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 probes corresponding to the amino acid sequence of purified mature human GM2A, <a href="#15" class="mim-tip-reference" title="Schroder, M., Klima, H., Nakano, T., Kwon, H., Quintern, L. E., Gartner, S., Suzuki, K., Sandhoff, K. <strong>Isolation of a cDNA encoding the human G(M2) activator protein.</strong> FEBS Lett. 251: 197-200, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2753159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2753159</a>] [<a href="https://doi.org/10.1016/0014-5793(89)81454-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2753159">Schroder et al. (1989)</a> cloned GM2A from a fibroblast cDNA library. The cDNA, which appeared to be incomplete at its 5-prime end, encodes a deduced 179-amino acid protein that includes a mature peptide of 160 amino acids. <a href="#15" class="mim-tip-reference" title="Schroder, M., Klima, H., Nakano, T., Kwon, H., Quintern, L. E., Gartner, S., Suzuki, K., Sandhoff, K. <strong>Isolation of a cDNA encoding the human G(M2) activator protein.</strong> FEBS Lett. 251: 197-200, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2753159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2753159</a>] [<a href="https://doi.org/10.1016/0014-5793(89)81454-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2753159">Schroder et al. (1989)</a> also observed a minor form of GM2A lacking 2 N-terminal serine residues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2753159" 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="#5" class="mim-tip-reference" title="Furst, W., Schubert, J., Machleidt, W., Meyer, H. E., Sandhoff, K. <strong>The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein.</strong> Europ. J. Biochem. 192: 709-714, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2209618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2209618</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1990.tb19280.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2209618">Furst et al. (1990)</a> purified mature GM2A from postmortem human kidney. The 162-amino acid protein has an extended hydrophobic segment from amino acids 15 to 90 that may form a triple-helical lipid-binding cavity. It has an N-linked carbohydrate chain at asn32. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2209618" 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>Using a partial GM2A clone to screen a cDNA library prepared from fibroblasts cultured from a patient with a juvenile form of Sandhoff disease (268800), followed by anchored PCR to obtain the 5-prime sequence, <a href="#9" class="mim-tip-reference" title="Klima, H., Tanaka, A., Schnabel, D., Nakano, T., Schroder, M., Suzuki, K., Sandhoff, K. <strong>Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein.</strong> FEBS Lett. 289: 260-264, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1915857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1915857</a>] [<a href="https://doi.org/10.1016/0014-5793(91)81084-l" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1915857">Klima et al. (1991)</a> cloned 2 GM2A splice variants. The variants differ only at their 3-prime UTR, which is very long in both cases, and encode an identical 194-amino acid protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1915857" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#19" class="mim-tip-reference" title="Wright, C. S., Li, S.-C., Rastinejad, F. <strong>Crystal structure of human GM2-activator protein with a novel beta-cup topology.</strong> J. Molec. Biol. 304: 411-422, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11090283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11090283</a>] [<a href="https://doi.org/10.1006/jmbi.2000.4225" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11090283">Wright et al. (2000)</a> determined the crystal structure of GM2 activator at 2.0-angstrom resolution, which revealed a previously unobserved fold whose main feature is an 8-stranded cup-shaped antiparallel beta-pleated sheet. They stated that the striking feature of the GM2A structure is an accessible central hydrophobic cavity rather than a buried hydrophobic core. They suggested that the mouth of the beta-cup, which contains flexible surface loops and a short alpha-helix, may control lipid entry to the cavity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11090283" 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 an enzyme-linked immunoadsorbant assay (ELISA) to identify the the GM2 activator protein in human-mouse somatic cell hybrids, <a href="#1" class="mim-tip-reference" title="Burg, J., Conzelmann, E., Sandhoff, K., Solomon, E., Swallow, D. M. <strong>Mapping of the gene coding for the human GM2 activator protein to chromosome 5.</strong> Ann. Hum. Genet. 49: 41-45, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3865618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3865618</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1985.tb01674.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3865618">Burg et al. (1985)</a> assigned the GM2A gene to chromosome 5. On the other hand, <a href="#8" class="mim-tip-reference" title="Kleyn, P. W., Brzustowicz, L. M., Wilhelmsen, K. C., Freimer, N. B., Miller, J. M., Munsat, T. L., Gilliam, T. C. <strong>Spinal muscular atrophy is not the result of mutations at the beta-hexosaminidase or GM(2)-activator locus.</strong> Neurology 41: 1418-1422, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1679910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1679910</a>] [<a href="https://doi.org/10.1212/wnl.41.9.1418" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1679910">Kleyn et al. (1991)</a> concluded from somatic cell hybrid studies that the gene does not map to chromosome 5. <a href="#20" class="mim-tip-reference" title="Xie, B., Kennedy, J. L., McInnes, B., Auger, D., Mahuran, D. <strong>Identification of a processed pseudogene related to the functional gene encoding the G-M2 activator protein: localization of the pseudogene to human chromosome 3 and the functional gene to human chromosome 5.</strong> Genomics 14: 796-798, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1427911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1427911</a>] [<a href="https://doi.org/10.1016/s0888-7543(05)80190-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1427911">Xie et al. (1992)</a> resolved the controversy concerning the chromosomal localization of the GM2A gene. They demonstrated that confusion had been caused by the presence of a previously unidentified processed GM2A pseudogene on chromosome 3. Furthermore, by use of a human/hamster somatic hybrid cell panel, they confirmed the location of the functional GM2A gene on chromosome 5. They concluded that GM2A should be considered a possible candidate for the site of the mutation in some forms of spinal muscular atrophy that map to 5q. By fluorescence in situ hybridization, <a href="#7" class="mim-tip-reference" title="Heng, H. H. Q., Xie, B., Shi, X.-M., Tsui, L.-C., Mahuran, D. J. <strong>Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus.</strong> Genomics 18: 429-431, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8288250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8288250</a>] [<a href="https://doi.org/10.1006/geno.1993.1491" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8288250">Heng et al. (1993)</a> regionalized the GM2A gene to 5q31.3-q33.1; thus, it is not a candidate gene for spinal muscular atrophy (SMA; <a href="/entry/253300">253300</a>), which had been mapped to 5q11.2-q13.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1427911+1679910+8288250+3865618" 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="#18" class="mim-tip-reference" title="Swallow, D. M., Islam, I., Fox, M. F., Povey, S., Klima, H., Schepers, U., Sandhoff, K. <strong>Regional localization of the gene coding for the GM2 activator protein (GM2A) to chromosome 5q32-33 and confirmation of the assignment of GM2AP to chromosome 3.</strong> Ann. Hum. Genet. 57: 187-193, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8257088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8257088</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1993.tb01594.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8257088">Swallow et al. (1993)</a> used PCR analysis of somatic cell hybrids and in situ hybridization to map the GM2A gene to 5q32-q33. They also confirmed the assignment of a pseudogene GM2AP to chromosome 3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8257088" 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="#22" class="mim-tip-reference" title="Yamanaka, S., Johnson, O. N., Lyu, M. S., Kozak, C. A., Proia, R. L. <strong>The mouse gene encoding the G(M2) activator protein (Gm2a): cDNA sequence, expression, and chromosome mapping.</strong> Genomics 24: 601-604, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7713516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7713516</a>] [<a href="https://doi.org/10.1006/geno.1994.1674" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7713516">Yamanaka et al. (1994)</a> mapped the mouse Gm2a gene to chromosome 11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7713516" 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="#9" class="mim-tip-reference" title="Klima, H., Tanaka, A., Schnabel, D., Nakano, T., Schroder, M., Suzuki, K., Sandhoff, K. <strong>Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein.</strong> FEBS Lett. 289: 260-264, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1915857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1915857</a>] [<a href="https://doi.org/10.1016/0014-5793(91)81084-l" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1915857">Klima et al. (1991)</a> determined that the GM2A gene contains at least 4 exons and spans over 9.5 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1915857" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In patients with AB variant GM2-gangliosidosis (<a href="/entry/272750">272750</a>), <a href="#17" class="mim-tip-reference" title="Schroder, M., Schnabel, D., Suzuki, K., Sandhoff, K. <strong>A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB.</strong> FEBS Lett. 290: 1-3, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1915858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1915858</a>] [<a href="https://doi.org/10.1016/0014-5793(91)81211-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1915858">Schroder et al. (1991)</a> identified homozygous mutations in the GM2A gene (<a href="#0001">613109.0001</a>-<a href="#0002">613109.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1915858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By RT-PCR of the GM2A gene in a patient with deficiency of GM2-activator protein, <a href="#2" class="mim-tip-reference" title="Chen, B., Rigat, B., Curry, C., Mahuran, D. J. <strong>Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.</strong> Am. J. Hum. Genet. 65: 77-87, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364519</a>] [<a href="https://doi.org/10.1086/302463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364519">Chen et al. (1999)</a> detected some normal-sized cDNA and a smaller cDNA species, which was not seen in the RT-PCR products from normal controls. Sequencing revealed that although the patient's normal-sized cDNA contained a single nonsense mutation in exon 2, his smaller cDNA was the result of an in-frame deletion of exon 2. Long PCR was used to amplify introns 1 and 2 from the patient and normal genomic DNA, and no differences in size, in 5-prime and 3-prime end sequences, or in restriction-mapping patterns were observed. From these data, <a href="#2" class="mim-tip-reference" title="Chen, B., Rigat, B., Curry, C., Mahuran, D. J. <strong>Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.</strong> Am. J. Hum. Genet. 65: 77-87, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364519</a>] [<a href="https://doi.org/10.1086/302463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364519">Chen et al. (1999)</a> developed a set of 4 PCR primers that could be used to identify GM2A mutations. With this procedure, they demonstrated that the patient was probably homozygous for a glu54-to-ter nonsense mutation (<a href="#0005">613109.0005</a>). <a href="#2" class="mim-tip-reference" title="Chen, B., Rigat, B., Curry, C., Mahuran, D. J. <strong>Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.</strong> Am. J. Hum. Genet. 65: 77-87, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364519</a>] [<a href="https://doi.org/10.1086/302463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364519">Chen et al. (1999)</a> pointed to the work of <a href="#4" class="mim-tip-reference" title="Dietz, H. C., Valle, D., Francomano, C. A., Kendzior, R. J., Jr., Pyeritz, R. E., Cutting, G. R. <strong>The skipping of constitutive exons in vivo induced by nonsense mutations.</strong> Science 259: 680-683, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8430317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8430317</a>] [<a href="https://doi.org/10.1126/science.8430317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8430317">Dietz et al. (1993)</a> and of others, indicating that shortened reading frames (i.e., early stop codons) can lead not only to mRNA instability, but also to the in-frame skipping of the constitutive exon in which the mutation is found. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8430317+10364519" 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="#11" class="mim-tip-reference" title="Liu, Y., Hoffmann, A., Grinberg, A., Westphal, H., McDonald, M. P., Miller, K. M., Crawley, J. N., Sandhoff, K., Suzuki, K., Proia, R. L. <strong>Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment.</strong> Proc. Nat. Acad. Sci. 94: 8138-8143, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9223328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9223328</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9223328[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.94.15.8138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9223328">Liu et al. (1997)</a> generated mice with a disrupted Gm2a gene as a model; knockout mouse models for Tay-Sachs and Sandhoff disease had previously been studied. Mice with disruption of the Hexa gene (the Tay-Sachs disease model) were asymptomatic, whereas those with absence of Hexb (the Sandhoff disease model) were severely affected. The mice with disruption of Gm2a demonstrated neuronal storage, but only in restricted regions of the brain, reminiscent of the asymptomatic Tay-Sachs model mice. However, unlike the Tay-Sachs mice, the Gm2a -/- mice displayed significant storage in the cerebellum and defects in balance and coordination. The abnormal ganglioside storage in these mice consisted of GM2 with a low amount of GA2. Their results demonstrated that the activator protein is required for GM2 degradation and also may indicate a role for GM2 activator in GA2 degradation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9223328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=613109[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 GM2-GANGLIOSIDOSIS, AB VARIANT</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852797 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852797;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/rs137852797?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=rs137852797" 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=rs137852797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In cultured fibroblasts derived from a black female infant, born of unrelated parents, with immunologically proven GM2 activator protein deficiency (<a href="/entry/272750">272750</a>), who was reported by <a href="#3" class="mim-tip-reference" title="de Baecque, C. M., Suzuki, K., Rapin, I., Johnson, A. B., Whethers, D. L., Suzuki, K. <strong>GM2-gangliosidosis, AB variant: clinico-pathological study of a case.</strong> Acta Neuropath. (Berlin) 33: 207-226, 1975."None>de Baecque et al. (1975)</a>, <a href="#17" class="mim-tip-reference" title="Schroder, M., Schnabel, D., Suzuki, K., Sandhoff, K. <strong>A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB.</strong> FEBS Lett. 290: 1-3, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1915858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1915858</a>] [<a href="https://doi.org/10.1016/0014-5793(91)81211-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1915858">Schroder et al. (1991)</a> identified a homozygous 412T-C transition (counted from A of the initiation codon) in the GM2A gene, resulting in a cys107-to-arg (C107R) substitution in the mature protein. In cells from the same patient, <a href="#21" class="mim-tip-reference" title="Xie, B., Wang, W., Mahuran, D. J. <strong>A cys138-to-arg substitution in the G-M2 activator protein is associated with the AB variant form of G-M2 gangliosidosis.</strong> Am. J. Hum. Genet. 50: 1046-1052, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1570834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1570834</a>]" pmid="1570834">Xie et al. (1992)</a> found the same mutation, which resulted in a cys138-to-arg (C138R) substitution in a different numbering system. Expression studies of the mutant supported the view that the point mutation was responsible for the disease phenotype. (<a href="#12" class="mim-tip-reference" title="Mahuran, D. J. <strong>Personal Communication.</strong> Toronto, Ontario, Canada 12/1/1994."None>Mahuran (1994)</a> pointed out that the mutations identified by <a href="#17" class="mim-tip-reference" title="Schroder, M., Schnabel, D., Suzuki, K., Sandhoff, K. <strong>A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB.</strong> FEBS Lett. 290: 1-3, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1915858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1915858</a>] [<a href="https://doi.org/10.1016/0014-5793(91)81211-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1915858">Schroder et al. (1991)</a> (CYS107ARG) and <a href="#21" class="mim-tip-reference" title="Xie, B., Wang, W., Mahuran, D. J. <strong>A cys138-to-arg substitution in the G-M2 activator protein is associated with the AB variant form of G-M2 gangliosidosis.</strong> Am. J. Hum. Genet. 50: 1046-1052, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1570834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1570834</a>]" pmid="1570834">Xie et al. (1992)</a> (CYS138ARG) are the same but derived from different amino acid numbering systems.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1570834+1915858" 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 GM2-GANGLIOSIDOSIS, AB VARIANT</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs104893892 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893892;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/rs104893892?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=rs104893892" 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=rs104893892" 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=RCV000000422" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000422" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000422</a>
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<p>In an infant with variant AB of GM2-gangliosidosis (<a href="/entry/272750">272750</a>), <a href="#16" class="mim-tip-reference" title="Schroder, M., Schnabel, D., Hurwitz, R., Young, E., Suzuki, K., Sandhoff, K. <strong>Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells.</strong> Hum. Genet. 92: 437-440, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244332</a>] [<a href="https://doi.org/10.1007/BF00216446" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8244332">Schroder et al. (1993)</a> identified a 506G-C transversion in the GM2A gene, resulting in substitution of proline for arginine-169 (R169P). The patient was homozygous, whereas both parents were heterozygous. Other studies suggested that the R169P mutation resulted in premature degradation of the mutant GM2 activator, either during the posttranslational processing steps or after reaching the lysosome. With other mutations, the phenotype appears to be due to inactivation of the physiologic activator function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8244332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 GM2-GANGLIOSIDOSIS, AB VARIANT</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">rs1753894328 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1753894328;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=rs1753894328" 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=rs1753894328" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Saudi Arabian child with the AB variant of GM2-gangliosidosis (<a href="/entry/272750">272750</a>), the offspring of consanguineous parents, <a href="#14" class="mim-tip-reference" title="Schepers, U., Glombitza, G., Lemm, T., Hoffmann, A., Chabas, A., Ozand, P., Sandhoff, K. <strong>Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant.</strong> Am. J. Hum. Genet. 59: 1048-1056, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8900233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8900233</a>]" pmid="8900233">Schepers et al. (1996)</a> identified homozygosity for a 3-bp deletion, AAG (nucleotides 262-264), resulting in deletion of lys88. The earliest sign of GM2A deficiency was a mild motor weakness beginning at 8 months of age. By 12 months of age, psychomotor retardation and hypotonia, associated with poor head control, hyporeflexia, and failure to sit unsupported were noted. After 14 months of age, the patient developed generalized convulsions, infantile spasms, and decreased visual attentiveness. Hyperacusis was evident and a cherry red spot on the macula was observed. The disease progressed rapidly after 24 months of age, associated with progressive deterioration, lateral nystagmus, hepatomegaly, encephalomegaly, and brain atrophy. Activities of beta-hexosaminidases A and B in leukocytes and plasma were normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8900233" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 GM2-GANGLIOSIDOSIS, AB VARIANT</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">rs2127240813 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2127240813;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=rs2127240813" 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=rs2127240813" 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=RCV000000424" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000424" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000424</a>
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<p>In the offspring of a consanguineous Spanish mating with GM2-gangliosidosis AB variant (<a href="/entry/272750">272750</a>), <a href="#14" class="mim-tip-reference" title="Schepers, U., Glombitza, G., Lemm, T., Hoffmann, A., Chabas, A., Ozand, P., Sandhoff, K. <strong>Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant.</strong> Am. J. Hum. Genet. 59: 1048-1056, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8900233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8900233</a>]" pmid="8900233">Schepers et al. (1996)</a> identified homozygosity for a single-base deletion at codon 137 (410A) that caused a frameshift in the GM2A gene. The frameshift resulted in substitution of 33 amino acids, the loss of another 24 amino acid residues, and a termination codon at residue 170. Although the cultured fibroblasts of both patients reported by <a href="#14" class="mim-tip-reference" title="Schepers, U., Glombitza, G., Lemm, T., Hoffmann, A., Chabas, A., Ozand, P., Sandhoff, K. <strong>Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant.</strong> Am. J. Hum. Genet. 59: 1048-1056, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8900233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8900233</a>]" pmid="8900233">Schepers et al. (1996)</a> produced normal levels of GM2A mRNA, they lacked a lysosomal form of GM2A protein. Pulsed-chase labeling of cultured fibroblasts indicated premature degradation of both the mutant and the truncated GM2A protein in the endoplasmic reticulum or Golgi. These results were supported by in vitro translation experiments and expression of the mutated proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8900233" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 GM2-GANGLIOSIDOSIS, AB VARIANT</strong>
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GM2A, GLU54TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104893897 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104893897;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=rs104893897" 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=rs104893897" 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=RCV000000425" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000425" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000425</a>
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<p><a href="#2" class="mim-tip-reference" title="Chen, B., Rigat, B., Curry, C., Mahuran, D. J. <strong>Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.</strong> Am. J. Hum. Genet. 65: 77-87, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364519</a>] [<a href="https://doi.org/10.1086/302463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364519">Chen et al. (1999)</a> studied a Laotian child with the AB variant form of GM2-gangliosidosis (<a href="/entry/272750">272750</a>) and identified a 160G-T transversion in the GM2A gene, resulting in a glu54-to-ter (E54X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10364519" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 GM2-GANGLIOSIDOSIS, AB VARIANT</strong>
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GM2A, PRO55LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs730882196 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs730882196;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=rs730882196" 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=rs730882196" 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=RCV000162097 OR RCV000235077" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000162097, RCV000235077" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000162097...</a>
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<p>In 3 patients from a highly consanguineous Saudi Arabian family with the AB variant form of GM2-gangliosidosis (<a href="/entry/272750">272750</a>), <a href="#13" class="mim-tip-reference" title="Salih, M. A., Seidahmed, M. Z., El Khashab, H. Y., Hamad, M. H. A., Bosley, T. M., Burn, S., Myers, A., Landsverk, M. L., Crotwell, P. L., Bilguvar, K., Mane, S., Kruer, M. C. <strong>Mutation in GM2A leads to a progressive chorea-dementia syndrome.</strong> Tremor Other Hyperkinet. Mov. (N.Y.) 5: 306, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26203402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26203402</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26203402[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.7916/D8D21WQ0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26203402">Salih et al. (2015)</a> identified a homozygous c.164C-T transition (c.164C-T, ENST00000357164) in the GM2A gene, resulting in a pro55-to-leu (P55L) substitution at a highly conserved residue in the MD-2-related lipid-recognition domain. The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing, was found at a very low frequency in the ExAC database. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26203402" 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>See Also:</strong>
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<a href="#Hechtman1982" class="mim-tip-reference" title="Hechtman, P., Gordon, B. A., Ng Ying Kin, N. M. K. <strong>Deficiency of the hexosaminidase A activator protein in a case of GM2 gangliosidosis; variant AB.</strong> Pediat. Res. 16: 217-222, 1982.">Hechtman et al. (1982)</a>; <a href="#Li1983" class="mim-tip-reference" title="Li, Y.-T., Muhiudeen, I. A., DeGasperi, R., Hirabayashi, Y., Li, S.-C. <strong>Presence of activator proteins for the enzymic hydrolysis of GM1 and GM2 gangliosides in normal human urine.</strong> Am. J. Hum. Genet. 35: 629-634, 1983.">Li et al. (1983)</a>
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<strong>REFERENCES</strong>
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<a id="Burg1985" class="mim-anchor"></a>
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Burg, J., Conzelmann, E., Sandhoff, K., Solomon, E., Swallow, D. M.
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<strong>Mapping of the gene coding for the human GM2 activator protein to chromosome 5.</strong>
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Ann. Hum. Genet. 49: 41-45, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3865618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3865618</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3865618" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1985.tb01674.x" target="_blank">Full Text</a>]
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Chen, B., Rigat, B., Curry, C., Mahuran, D. J.
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<strong>Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.</strong>
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Am. J. Hum. Genet. 65: 77-87, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364519</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10364519" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/302463" target="_blank">Full Text</a>]
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<a id="de Baecque1975" class="mim-anchor"></a>
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de Baecque, C. M., Suzuki, K., Rapin, I., Johnson, A. B., Whethers, D. L., Suzuki, K.
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<strong>GM2-gangliosidosis, AB variant: clinico-pathological study of a case.</strong>
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Acta Neuropath. (Berlin) 33: 207-226, 1975.
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Dietz, H. C., Valle, D., Francomano, C. A., Kendzior, R. J., Jr., Pyeritz, R. E., Cutting, G. R.
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<strong>The skipping of constitutive exons in vivo induced by nonsense mutations.</strong>
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Science 259: 680-683, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8430317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8430317</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8430317" 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/10.1126/science.8430317" target="_blank">Full Text</a>]
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Furst, W., Schubert, J., Machleidt, W., Meyer, H. E., Sandhoff, K.
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<strong>The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein.</strong>
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Europ. J. Biochem. 192: 709-714, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2209618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2209618</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2209618" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1432-1033.1990.tb19280.x" target="_blank">Full Text</a>]
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Hechtman, P., Gordon, B. A., Ng Ying Kin, N. M. K.
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Pediat. Res. 16: 217-222, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6801612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6801612</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6801612" 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/10.1203/00006450-198203000-00011" target="_blank">Full Text</a>]
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Heng, H. H. Q., Xie, B., Shi, X.-M., Tsui, L.-C., Mahuran, D. J.
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<strong>Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus.</strong>
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Genomics 18: 429-431, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8288250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8288250</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8288250" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1993.1491" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Kleyn1991" class="mim-anchor"></a>
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<div class="">
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Kleyn, P. W., Brzustowicz, L. M., Wilhelmsen, K. C., Freimer, N. B., Miller, J. M., Munsat, T. L., Gilliam, T. C.
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<strong>Spinal muscular atrophy is not the result of mutations at the beta-hexosaminidase or GM(2)-activator locus.</strong>
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Neurology 41: 1418-1422, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1679910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1679910</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1679910" 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.41.9.1418" target="_blank">Full Text</a>]
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<a id="Klima1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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<strong>Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein.</strong>
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[<a href="https://doi.org/10.1016/0014-5793(91)81084-l" target="_blank">Full Text</a>]
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<a id="Li1983" class="mim-anchor"></a>
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Li, Y.-T., Muhiudeen, I. A., DeGasperi, R., Hirabayashi, Y., Li, S.-C.
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<strong>Presence of activator proteins for the enzymic hydrolysis of GM1 and GM2 gangliosides in normal human urine.</strong>
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Am. J. Hum. Genet. 35: 629-634, 1983.
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<a id="Liu1997" class="mim-anchor"></a>
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<strong>Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9223328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9223328</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9223328[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9223328" 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/10.1073/pnas.94.15.8138" target="_blank">Full Text</a>]
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<strong>Personal Communication.</strong>
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Toronto, Ontario, Canada 12/1/1994.
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<a id="Salih2015" class="mim-anchor"></a>
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<div class="">
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Salih, M. A., Seidahmed, M. Z., El Khashab, H. Y., Hamad, M. H. A., Bosley, T. M., Burn, S., Myers, A., Landsverk, M. L., Crotwell, P. L., Bilguvar, K., Mane, S., Kruer, M. C.
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<strong>Mutation in GM2A leads to a progressive chorea-dementia syndrome.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26203402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26203402</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26203402[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26203402" 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/10.7916/D8D21WQ0" target="_blank">Full Text</a>]
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<a id="Schepers1996" class="mim-anchor"></a>
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Schepers, U., Glombitza, G., Lemm, T., Hoffmann, A., Chabas, A., Ozand, P., Sandhoff, K.
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<strong>Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant.</strong>
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Am. J. Hum. Genet. 59: 1048-1056, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8900233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8900233</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8900233" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Schroder1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schroder, M., Klima, H., Nakano, T., Kwon, H., Quintern, L. E., Gartner, S., Suzuki, K., Sandhoff, K.
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<strong>Isolation of a cDNA encoding the human G(M2) activator protein.</strong>
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FEBS Lett. 251: 197-200, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2753159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2753159</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2753159" 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/10.1016/0014-5793(89)81454-1" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Schroder1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schroder, M., Schnabel, D., Hurwitz, R., Young, E., Suzuki, K., Sandhoff, K.
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<strong>Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells.</strong>
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Hum. Genet. 92: 437-440, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244332</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8244332" 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/10.1007/BF00216446" target="_blank">Full Text</a>]
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<a id="Schroder1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schroder, M., Schnabel, D., Suzuki, K., Sandhoff, K.
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<strong>A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB.</strong>
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FEBS Lett. 290: 1-3, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1915858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1915858</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1915858" 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/10.1016/0014-5793(91)81211-p" target="_blank">Full Text</a>]
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<a id="Swallow1993" class="mim-anchor"></a>
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<div class="">
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Swallow, D. M., Islam, I., Fox, M. F., Povey, S., Klima, H., Schepers, U., Sandhoff, K.
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<strong>Regional localization of the gene coding for the GM2 activator protein (GM2A) to chromosome 5q32-33 and confirmation of the assignment of GM2AP to chromosome 3.</strong>
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Ann. Hum. Genet. 57: 187-193, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8257088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8257088</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8257088" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1469-1809.1993.tb01594.x" target="_blank">Full Text</a>]
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<a id="Wright2000" class="mim-anchor"></a>
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<p class="mim-text-font">
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Wright, C. S., Li, S.-C., Rastinejad, F.
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<strong>Crystal structure of human GM2-activator protein with a novel beta-cup topology.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11090283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11090283</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11090283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/jmbi.2000.4225" target="_blank">Full Text</a>]
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<a id="Xie1992" class="mim-anchor"></a>
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Xie, B., Kennedy, J. L., McInnes, B., Auger, D., Mahuran, D.
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<strong>Identification of a processed pseudogene related to the functional gene encoding the G-M2 activator protein: localization of the pseudogene to human chromosome 3 and the functional gene to human chromosome 5.</strong>
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Genomics 14: 796-798, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1427911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1427911</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1427911" 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/s0888-7543(05)80190-9" target="_blank">Full Text</a>]
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Xie, B., Wang, W., Mahuran, D. J.
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<strong>A cys138-to-arg substitution in the G-M2 activator protein is associated with the AB variant form of G-M2 gangliosidosis.</strong>
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Am. J. Hum. Genet. 50: 1046-1052, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1570834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1570834</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1570834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Yamanaka, S., Johnson, O. N., Lyu, M. S., Kozak, C. A., Proia, R. L.
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<strong>The mouse gene encoding the G(M2) activator protein (Gm2a): cDNA sequence, expression, and chromosome mapping.</strong>
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Genomics 24: 601-604, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7713516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7713516</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7713516" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1994.1674" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 7/6/2016
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 11/19/2009<br>Patricia A. Hartz - updated : 11/4/2009
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Creation Date:
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<span class="mim-text-font">
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Carol A. Bocchini : 11/2/2009
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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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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/22/2022
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/04/2019<br>carol : 10/21/2016<br>carol : 07/18/2016<br>ckniffin : 7/6/2016<br>carol : 12/1/2009<br>terry : 11/19/2009<br>terry : 11/5/2009<br>carol : 11/5/2009<br>carol : 11/4/2009<br>terry : 11/4/2009<br>terry : 11/4/2009<br>carol : 11/3/2009
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 613109
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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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GM2 ACTIVATOR; GM2A
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</span>
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</h3>
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</div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GM2A</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 71253000;
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</span>
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</p>
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<br />
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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: 5q33.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 5:151,253,185-151,270,440 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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5q33.1
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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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GM2-gangliosidosis, AB variant
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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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272750
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The GM2 activator is a low molecular weight, soluble protein that binds to the GM2 ganglioside, extracts it from the membrane, and solubilizes it as an activator/lipid complex which forms the substrate for the GM2 degradation by beta-hexosaminidase A (Klima et al., 1991). </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 probes corresponding to the amino acid sequence of purified mature human GM2A, Schroder et al. (1989) cloned GM2A from a fibroblast cDNA library. The cDNA, which appeared to be incomplete at its 5-prime end, encodes a deduced 179-amino acid protein that includes a mature peptide of 160 amino acids. Schroder et al. (1989) also observed a minor form of GM2A lacking 2 N-terminal serine residues. </p><p>Furst et al. (1990) purified mature GM2A from postmortem human kidney. The 162-amino acid protein has an extended hydrophobic segment from amino acids 15 to 90 that may form a triple-helical lipid-binding cavity. It has an N-linked carbohydrate chain at asn32. </p><p>Using a partial GM2A clone to screen a cDNA library prepared from fibroblasts cultured from a patient with a juvenile form of Sandhoff disease (268800), followed by anchored PCR to obtain the 5-prime sequence, Klima et al. (1991) cloned 2 GM2A splice variants. The variants differ only at their 3-prime UTR, which is very long in both cases, and encode an identical 194-amino acid protein. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Crystal Structure</em></strong></p><p>
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Wright et al. (2000) determined the crystal structure of GM2 activator at 2.0-angstrom resolution, which revealed a previously unobserved fold whose main feature is an 8-stranded cup-shaped antiparallel beta-pleated sheet. They stated that the striking feature of the GM2A structure is an accessible central hydrophobic cavity rather than a buried hydrophobic core. They suggested that the mouth of the beta-cup, which contains flexible surface loops and a short alpha-helix, may control lipid entry to the cavity. </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>Using an enzyme-linked immunoadsorbant assay (ELISA) to identify the the GM2 activator protein in human-mouse somatic cell hybrids, Burg et al. (1985) assigned the GM2A gene to chromosome 5. On the other hand, Kleyn et al. (1991) concluded from somatic cell hybrid studies that the gene does not map to chromosome 5. Xie et al. (1992) resolved the controversy concerning the chromosomal localization of the GM2A gene. They demonstrated that confusion had been caused by the presence of a previously unidentified processed GM2A pseudogene on chromosome 3. Furthermore, by use of a human/hamster somatic hybrid cell panel, they confirmed the location of the functional GM2A gene on chromosome 5. They concluded that GM2A should be considered a possible candidate for the site of the mutation in some forms of spinal muscular atrophy that map to 5q. By fluorescence in situ hybridization, Heng et al. (1993) regionalized the GM2A gene to 5q31.3-q33.1; thus, it is not a candidate gene for spinal muscular atrophy (SMA; 253300), which had been mapped to 5q11.2-q13.3. </p><p>Swallow et al. (1993) used PCR analysis of somatic cell hybrids and in situ hybridization to map the GM2A gene to 5q32-q33. They also confirmed the assignment of a pseudogene GM2AP to chromosome 3. </p><p>Yamanaka et al. (1994) mapped the mouse Gm2a gene to chromosome 11. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Klima et al. (1991) determined that the GM2A gene contains at least 4 exons and spans over 9.5 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In patients with AB variant GM2-gangliosidosis (272750), Schroder et al. (1991) identified homozygous mutations in the GM2A gene (613109.0001-613109.0002). </p><p>By RT-PCR of the GM2A gene in a patient with deficiency of GM2-activator protein, Chen et al. (1999) detected some normal-sized cDNA and a smaller cDNA species, which was not seen in the RT-PCR products from normal controls. Sequencing revealed that although the patient's normal-sized cDNA contained a single nonsense mutation in exon 2, his smaller cDNA was the result of an in-frame deletion of exon 2. Long PCR was used to amplify introns 1 and 2 from the patient and normal genomic DNA, and no differences in size, in 5-prime and 3-prime end sequences, or in restriction-mapping patterns were observed. From these data, Chen et al. (1999) developed a set of 4 PCR primers that could be used to identify GM2A mutations. With this procedure, they demonstrated that the patient was probably homozygous for a glu54-to-ter nonsense mutation (613109.0005). Chen et al. (1999) pointed to the work of Dietz et al. (1993) and of others, indicating that shortened reading frames (i.e., early stop codons) can lead not only to mRNA instability, but also to the in-frame skipping of the constitutive exon in which the mutation is found. </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">
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<p>Liu et al. (1997) generated mice with a disrupted Gm2a gene as a model; knockout mouse models for Tay-Sachs and Sandhoff disease had previously been studied. Mice with disruption of the Hexa gene (the Tay-Sachs disease model) were asymptomatic, whereas those with absence of Hexb (the Sandhoff disease model) were severely affected. The mice with disruption of Gm2a demonstrated neuronal storage, but only in restricted regions of the brain, reminiscent of the asymptomatic Tay-Sachs model mice. However, unlike the Tay-Sachs mice, the Gm2a -/- mice displayed significant storage in the cerebellum and defects in balance and coordination. The abnormal ganglioside storage in these mice consisted of GM2 with a low amount of GA2. Their results demonstrated that the activator protein is required for GM2 degradation and also may indicate a role for GM2 activator in GA2 degradation. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 GM2-GANGLIOSIDOSIS, AB VARIANT</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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GM2A, CYS138ARG
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<br />
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SNP: rs137852797,
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gnomAD: rs137852797,
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ClinVar: RCV000000421
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In cultured fibroblasts derived from a black female infant, born of unrelated parents, with immunologically proven GM2 activator protein deficiency (272750), who was reported by de Baecque et al. (1975), Schroder et al. (1991) identified a homozygous 412T-C transition (counted from A of the initiation codon) in the GM2A gene, resulting in a cys107-to-arg (C107R) substitution in the mature protein. In cells from the same patient, Xie et al. (1992) found the same mutation, which resulted in a cys138-to-arg (C138R) substitution in a different numbering system. Expression studies of the mutant supported the view that the point mutation was responsible for the disease phenotype. (Mahuran (1994) pointed out that the mutations identified by Schroder et al. (1991) (CYS107ARG) and Xie et al. (1992) (CYS138ARG) are the same but derived from different amino acid numbering systems.) </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 GM2-GANGLIOSIDOSIS, AB VARIANT</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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GM2A, ARG169PRO
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<br />
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SNP: rs104893892,
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gnomAD: rs104893892,
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ClinVar: RCV000000422
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an infant with variant AB of GM2-gangliosidosis (272750), Schroder et al. (1993) identified a 506G-C transversion in the GM2A gene, resulting in substitution of proline for arginine-169 (R169P). The patient was homozygous, whereas both parents were heterozygous. Other studies suggested that the R169P mutation resulted in premature degradation of the mutant GM2 activator, either during the posttranslational processing steps or after reaching the lysosome. With other mutations, the phenotype appears to be due to inactivation of the physiologic activator function. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 GM2-GANGLIOSIDOSIS, AB VARIANT</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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GM2A, 3-BP DEL, 262AAG
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<br />
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SNP: rs1753894328,
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ClinVar: RCV001253492
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Saudi Arabian child with the AB variant of GM2-gangliosidosis (272750), the offspring of consanguineous parents, Schepers et al. (1996) identified homozygosity for a 3-bp deletion, AAG (nucleotides 262-264), resulting in deletion of lys88. The earliest sign of GM2A deficiency was a mild motor weakness beginning at 8 months of age. By 12 months of age, psychomotor retardation and hypotonia, associated with poor head control, hyporeflexia, and failure to sit unsupported were noted. After 14 months of age, the patient developed generalized convulsions, infantile spasms, and decreased visual attentiveness. Hyperacusis was evident and a cherry red spot on the macula was observed. The disease progressed rapidly after 24 months of age, associated with progressive deterioration, lateral nystagmus, hepatomegaly, encephalomegaly, and brain atrophy. Activities of beta-hexosaminidases A and B in leukocytes and plasma were normal. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 GM2-GANGLIOSIDOSIS, AB VARIANT</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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GM2A, 1-BP DEL, 410A
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<br />
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SNP: rs2127240813,
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ClinVar: RCV000000424
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In the offspring of a consanguineous Spanish mating with GM2-gangliosidosis AB variant (272750), Schepers et al. (1996) identified homozygosity for a single-base deletion at codon 137 (410A) that caused a frameshift in the GM2A gene. The frameshift resulted in substitution of 33 amino acids, the loss of another 24 amino acid residues, and a termination codon at residue 170. Although the cultured fibroblasts of both patients reported by Schepers et al. (1996) produced normal levels of GM2A mRNA, they lacked a lysosomal form of GM2A protein. Pulsed-chase labeling of cultured fibroblasts indicated premature degradation of both the mutant and the truncated GM2A protein in the endoplasmic reticulum or Golgi. These results were supported by in vitro translation experiments and expression of the mutated proteins. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 GM2-GANGLIOSIDOSIS, AB VARIANT</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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GM2A, GLU54TER
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<br />
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SNP: rs104893897,
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ClinVar: RCV000000425
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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>Chen et al. (1999) studied a Laotian child with the AB variant form of GM2-gangliosidosis (272750) and identified a 160G-T transversion in the GM2A gene, resulting in a glu54-to-ter (E54X) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 GM2-GANGLIOSIDOSIS, AB VARIANT</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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GM2A, PRO55LEU
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<br />
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SNP: rs730882196,
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ClinVar: RCV000162097, RCV000235077
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 patients from a highly consanguineous Saudi Arabian family with the AB variant form of GM2-gangliosidosis (272750), Salih et al. (2015) identified a homozygous c.164C-T transition (c.164C-T, ENST00000357164) in the GM2A gene, resulting in a pro55-to-leu (P55L) substitution at a highly conserved residue in the MD-2-related lipid-recognition domain. The mutation, which was found by a combination of homozygosity mapping and whole-exome sequencing, was found at a very low frequency in the ExAC database. Functional studies of the variant and studies of patient cells were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Hechtman et al. (1982); Li et al. (1983)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Burg, J., Conzelmann, E., Sandhoff, K., Solomon, E., Swallow, D. M.
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<strong>Mapping of the gene coding for the human GM2 activator protein to chromosome 5.</strong>
|
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Ann. Hum. Genet. 49: 41-45, 1985.
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[PubMed: 3865618]
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[Full Text: https://doi.org/10.1111/j.1469-1809.1985.tb01674.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Chen, B., Rigat, B., Curry, C., Mahuran, D. J.
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<strong>Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.</strong>
|
|
Am. J. Hum. Genet. 65: 77-87, 1999.
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[PubMed: 10364519]
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[Full Text: https://doi.org/10.1086/302463]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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de Baecque, C. M., Suzuki, K., Rapin, I., Johnson, A. B., Whethers, D. L., Suzuki, K.
|
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<strong>GM2-gangliosidosis, AB variant: clinico-pathological study of a case.</strong>
|
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Acta Neuropath. (Berlin) 33: 207-226, 1975.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dietz, H. C., Valle, D., Francomano, C. A., Kendzior, R. J., Jr., Pyeritz, R. E., Cutting, G. R.
|
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<strong>The skipping of constitutive exons in vivo induced by nonsense mutations.</strong>
|
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Science 259: 680-683, 1993.
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[PubMed: 8430317]
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[Full Text: https://doi.org/10.1126/science.8430317]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Furst, W., Schubert, J., Machleidt, W., Meyer, H. E., Sandhoff, K.
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<strong>The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein.</strong>
|
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Europ. J. Biochem. 192: 709-714, 1990.
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[PubMed: 2209618]
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[Full Text: https://doi.org/10.1111/j.1432-1033.1990.tb19280.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hechtman, P., Gordon, B. A., Ng Ying Kin, N. M. K.
|
|
<strong>Deficiency of the hexosaminidase A activator protein in a case of GM2 gangliosidosis; variant AB.</strong>
|
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Pediat. Res. 16: 217-222, 1982.
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[PubMed: 6801612]
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[Full Text: https://doi.org/10.1203/00006450-198203000-00011]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Heng, H. H. Q., Xie, B., Shi, X.-M., Tsui, L.-C., Mahuran, D. J.
|
|
<strong>Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus.</strong>
|
|
Genomics 18: 429-431, 1993.
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[PubMed: 8288250]
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[Full Text: https://doi.org/10.1006/geno.1993.1491]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Kleyn, P. W., Brzustowicz, L. M., Wilhelmsen, K. C., Freimer, N. B., Miller, J. M., Munsat, T. L., Gilliam, T. C.
|
|
<strong>Spinal muscular atrophy is not the result of mutations at the beta-hexosaminidase or GM(2)-activator locus.</strong>
|
|
Neurology 41: 1418-1422, 1991.
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|
|
[PubMed: 1679910]
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[Full Text: https://doi.org/10.1212/wnl.41.9.1418]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Klima, H., Tanaka, A., Schnabel, D., Nakano, T., Schroder, M., Suzuki, K., Sandhoff, K.
|
|
<strong>Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein.</strong>
|
|
FEBS Lett. 289: 260-264, 1991.
|
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|
|
[PubMed: 1915857]
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[Full Text: https://doi.org/10.1016/0014-5793(91)81084-l]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Li, Y.-T., Muhiudeen, I. A., DeGasperi, R., Hirabayashi, Y., Li, S.-C.
|
|
<strong>Presence of activator proteins for the enzymic hydrolysis of GM1 and GM2 gangliosides in normal human urine.</strong>
|
|
Am. J. Hum. Genet. 35: 629-634, 1983.
|
|
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|
|
[PubMed: 6881139]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Liu, Y., Hoffmann, A., Grinberg, A., Westphal, H., McDonald, M. P., Miller, K. M., Crawley, J. N., Sandhoff, K., Suzuki, K., Proia, R. L.
|
|
<strong>Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment.</strong>
|
|
Proc. Nat. Acad. Sci. 94: 8138-8143, 1997.
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|
[PubMed: 9223328]
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[Full Text: https://doi.org/10.1073/pnas.94.15.8138]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Mahuran, D. J.
|
|
<strong>Personal Communication.</strong>
|
|
Toronto, Ontario, Canada 12/1/1994.
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Salih, M. A., Seidahmed, M. Z., El Khashab, H. Y., Hamad, M. H. A., Bosley, T. M., Burn, S., Myers, A., Landsverk, M. L., Crotwell, P. L., Bilguvar, K., Mane, S., Kruer, M. C.
|
|
<strong>Mutation in GM2A leads to a progressive chorea-dementia syndrome.</strong>
|
|
Tremor Other Hyperkinet. Mov. (N.Y.) 5: 306, 2015. Note: Electronic Article.
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|
|
[PubMed: 26203402]
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[Full Text: https://doi.org/10.7916/D8D21WQ0]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Schepers, U., Glombitza, G., Lemm, T., Hoffmann, A., Chabas, A., Ozand, P., Sandhoff, K.
|
|
<strong>Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant.</strong>
|
|
Am. J. Hum. Genet. 59: 1048-1056, 1996.
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|
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[PubMed: 8900233]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Schroder, M., Klima, H., Nakano, T., Kwon, H., Quintern, L. E., Gartner, S., Suzuki, K., Sandhoff, K.
|
|
<strong>Isolation of a cDNA encoding the human G(M2) activator protein.</strong>
|
|
FEBS Lett. 251: 197-200, 1989.
|
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|
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[PubMed: 2753159]
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[Full Text: https://doi.org/10.1016/0014-5793(89)81454-1]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
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Schroder, M., Schnabel, D., Hurwitz, R., Young, E., Suzuki, K., Sandhoff, K.
|
|
<strong>Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells.</strong>
|
|
Hum. Genet. 92: 437-440, 1993.
|
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|
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[PubMed: 8244332]
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[Full Text: https://doi.org/10.1007/BF00216446]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Schroder, M., Schnabel, D., Suzuki, K., Sandhoff, K.
|
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<strong>A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB.</strong>
|
|
FEBS Lett. 290: 1-3, 1991.
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[PubMed: 1915858]
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[Full Text: https://doi.org/10.1016/0014-5793(91)81211-p]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Swallow, D. M., Islam, I., Fox, M. F., Povey, S., Klima, H., Schepers, U., Sandhoff, K.
|
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<strong>Regional localization of the gene coding for the GM2 activator protein (GM2A) to chromosome 5q32-33 and confirmation of the assignment of GM2AP to chromosome 3.</strong>
|
|
Ann. Hum. Genet. 57: 187-193, 1993.
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|
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[PubMed: 8257088]
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[Full Text: https://doi.org/10.1111/j.1469-1809.1993.tb01594.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Wright, C. S., Li, S.-C., Rastinejad, F.
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<strong>Crystal structure of human GM2-activator protein with a novel beta-cup topology.</strong>
|
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J. Molec. Biol. 304: 411-422, 2000.
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[PubMed: 11090283]
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[Full Text: https://doi.org/10.1006/jmbi.2000.4225]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Xie, B., Kennedy, J. L., McInnes, B., Auger, D., Mahuran, D.
|
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<strong>Identification of a processed pseudogene related to the functional gene encoding the G-M2 activator protein: localization of the pseudogene to human chromosome 3 and the functional gene to human chromosome 5.</strong>
|
|
Genomics 14: 796-798, 1992.
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[PubMed: 1427911]
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[Full Text: https://doi.org/10.1016/s0888-7543(05)80190-9]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Xie, B., Wang, W., Mahuran, D. J.
|
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<strong>A cys138-to-arg substitution in the G-M2 activator protein is associated with the AB variant form of G-M2 gangliosidosis.</strong>
|
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Am. J. Hum. Genet. 50: 1046-1052, 1992.
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[PubMed: 1570834]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Yamanaka, S., Johnson, O. N., Lyu, M. S., Kozak, C. A., Proia, R. L.
|
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<strong>The mouse gene encoding the G(M2) activator protein (Gm2a): cDNA sequence, expression, and chromosome mapping.</strong>
|
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Genomics 24: 601-604, 1994.
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[PubMed: 7713516]
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[Full Text: https://doi.org/10.1006/geno.1994.1674]
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</li>
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</ol>
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 7/6/2016<br>Patricia A. Hartz - updated : 11/19/2009<br>Patricia A. Hartz - updated : 11/4/2009
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<span class="mim-text-font">
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Carol A. Bocchini : 11/2/2009
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carol : 02/22/2022<br>carol : 06/04/2019<br>carol : 10/21/2016<br>carol : 07/18/2016<br>ckniffin : 7/6/2016<br>carol : 12/1/2009<br>terry : 11/19/2009<br>terry : 11/5/2009<br>carol : 11/5/2009<br>carol : 11/4/2009<br>terry : 11/4/2009<br>terry : 11/4/2009<br>carol : 11/3/2009
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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