3760 lines
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Entry
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- *603690 - SOLUTE CARRIER FAMILY 33 (ACETYL-CoA TRANSPORTER), MEMBER 1; SLC33A1
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- OMIM
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<p>
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<span class="h4">*603690</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<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/603690">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000169359;t=ENST00000643144" 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=9197" 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=603690" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000169359;t=ENST00000643144" 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_001190992,NM_001363883,NM_004733,XM_011513311,XM_017007463,XM_017007464,XM_047449194,XM_047449195,XM_047449196,XM_047449197,XM_047449198,XM_047449199,XM_047449200" 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_004733" 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=603690" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=04734&isoform_id=04734_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/SLC33A1" 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/2114304,4757708,15680146,74735319,119599149,119599150,189053393,300360496,767928008,1034636386,1034636389,1394533384,2217346829,2217346831,2217346833,2217346836,2217346838,2217346840,2217346843,2462593655,2462593657,2462593659,2462593661,2462593663,2462593665,2462593667,2462593669,2462593671" 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/O00400" 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=9197" 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=ENSG00000169359;t=ENST00000643144" 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=SLC33A1" 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=SLC33A1" 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+9197" 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/SLC33A1" 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:9197" 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/9197" 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=chr3&hgg_gene=ENST00000643876.1&hgg_start=155821024&hgg_end=155854427&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603690[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 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=603690[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/ENSG00000169359" 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=SLC33A1" 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=SLC33A1" 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=SLC33A1" 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=SLC33A1&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/PA24432" 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:95" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0036662.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1332247" 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/SLC33A1#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:1332247" 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/9197/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/OMIA002862/" 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=9197" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00012033;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1241" 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:9197" 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=SLC33A1&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> 763070001, 773648002<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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603690
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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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SOLUTE CARRIER FAMILY 33 (ACETYL-CoA TRANSPORTER), MEMBER 1; SLC33A1
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</span>
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</h3>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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ACETYL-CoA TRANSPORTER; ACATN<br />
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AT1
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SLC33A1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC33A1</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/3/803?start=-3&limit=10&highlight=803">3q25.31</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:155821024-155854427&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'})">3:155,821,024-155,854,427</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;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
|
|
Phenotype
|
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614482,612539" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
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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="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/803?start=-3&limit=10&highlight=803">
|
|
3q25.31
|
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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">
|
|
Huppke-Brendel syndrome
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/614482"> 614482 </a>
|
|
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="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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<tr>
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<td>
|
|
<span class="mim-font">
|
|
Spastic paraplegia 42, autosomal dominant
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/612539"> 612539 </a>
|
|
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
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<p>The structural diversity and complexity of sugar chains in membrane gangliosides are caused in part by the occurrence of several different species of sialic acid molecules, including O-acetylated forms. Acetylation of sialic acid residues of glycoproteins and gangliosides occurs in the lumen of the Golgi apparatus, using acetyl-CoA as the acetate donor. By expression cloning, <a href="#6" class="mim-tip-reference" title="Kanamori, A., Nakayama, J., Fukuda, M. N., Stallcup, W. B., Sasaki, K., Fukuda, M., Hirabayashi, Y. <strong>Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated ganglioside: a putative acetyl-CoA transporter.</strong> Proc. Nat. Acad. Sci. 94: 2897-2902, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9096318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9096318</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9096318[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.94.7.2897" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9096318">Kanamori et al. (1997)</a> isolated a human melanoma cell line cDNA encoding AT1, a protein that directed the formation of 9-O-acetylated ganglioside GD3 in mammalian cells. The predicted 549-amino acid protein contained 6 to 10 transmembrane domains and a leucine zipper motif in transmembrane domain III. Immunofluorescence experiments indicated that the 58-kD protein is localized to the cytoplasm. Using in vitro assays with semi-intact cells, <a href="#6" class="mim-tip-reference" title="Kanamori, A., Nakayama, J., Fukuda, M. N., Stallcup, W. B., Sasaki, K., Fukuda, M., Hirabayashi, Y. <strong>Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated ganglioside: a putative acetyl-CoA transporter.</strong> Proc. Nat. Acad. Sci. 94: 2897-2902, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9096318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9096318</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9096318[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.94.7.2897" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9096318">Kanamori et al. (1997)</a> demonstrated that the AT1 protein functioned as an acetyl-CoA transporter. Northern blot analysis revealed that AT1 was expressed as 3.3- and 4.3-kb mRNAs in all tissues tested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9096318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In various cellular studies, <a href="#4" class="mim-tip-reference" title="Huppke, P., Brendel, C., Kalscheuer, V., Korenke, G. C., Marquardt, I., Freisinger, P., Christodoulou, J., Hillebrand, M., Pitelet, G., Wilson, C., Gruber-Sedlmayr, U., Ullmann, R., Haas, S., Elpeleg, O., Nurnberg, G., Nurnberg, P., Dad, S., Moller, L. B., Kaler, S. G., Gartner, J. <strong>Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.</strong> Am. J. Hum. Genet. 90: 61-68, 2012. Note: Erratum: Am. J. Hum. Genet. 90: 378 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243965[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/10.1016/j.ajhg.2011.11.030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22243965">Huppke et al. (2012)</a> found that the SLC33A1 protein showed a perinuclear cytoplasmic distribution and localized to the Golgi apparatus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22243965" 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="#8" class="mim-tip-reference" title="Lin, P., Li, J., Liu, Q., Mao, F., Li, J., Qiu, R., Hu, H., Song, Y., Yang, Y., Gao, G., Yan, C., Yang, W., Shao, C., Gong, Y. <strong>A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).</strong> Am. J. Hum. Genet. 83: 752-759, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061983[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/10.1016/j.ajhg.2008.11.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19061983">Lin et al. (2008)</a> reported that the SLC33A1 gene has 6 coding exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19061983" 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="#8" class="mim-tip-reference" title="Lin, P., Li, J., Liu, Q., Mao, F., Li, J., Qiu, R., Hu, H., Song, Y., Yang, Y., Gao, G., Yan, C., Yang, W., Shao, C., Gong, Y. <strong>A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).</strong> Am. J. Hum. Genet. 83: 752-759, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061983[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/10.1016/j.ajhg.2008.11.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19061983">Lin et al. (2008)</a> reported that the SLC33A1 gene maps to chromosome 3q25.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19061983" 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 fluorescence in situ hybridization, <a href="#1" class="mim-tip-reference" title="Bora, R. S., Kanamori, A., Hirabayashi, Y. <strong>Assignment of a putative acetyl-CoA transporter gene (Acatn) to mouse chromosome band 3E1-E3 by in situ hybridization.</strong> Cytogenet. Cell Genet. 83: 78-79, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9925934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9925934</a>] [<a href="https://doi.org/10.1159/000015132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9925934">Bora et al. (1998)</a> mapped the Acatn gene to mouse chromosome 3E1-E3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9925934" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Kanamori, A., Nakayama, J., Fukuda, M. N., Stallcup, W. B., Sasaki, K., Fukuda, M., Hirabayashi, Y. <strong>Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated ganglioside: a putative acetyl-CoA transporter.</strong> Proc. Nat. Acad. Sci. 94: 2897-2902, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9096318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9096318</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9096318[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.94.7.2897" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9096318">Kanamori et al. (1997)</a> concluded that AT1 is an acetyl-CoA transporter that is involved in the process of O-acetylation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9096318" 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><strong><em>Spastic Paraplegia 42, Autosomal Dominant</em></strong></p><p>
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In affected members of a Chinese family with autosomal dominant spastic paraplegia-42 (SPG42; <a href="/entry/612539">612539</a>), <a href="#8" class="mim-tip-reference" title="Lin, P., Li, J., Liu, Q., Mao, F., Li, J., Qiu, R., Hu, H., Song, Y., Yang, Y., Gao, G., Yan, C., Yang, W., Shao, C., Gong, Y. <strong>A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).</strong> Am. J. Hum. Genet. 83: 752-759, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061983[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/10.1016/j.ajhg.2008.11.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19061983">Lin et al. (2008)</a> identified a heterozygous mutation in the SLC33A1 gene (<a href="#0001">603690.0001</a>). The authors postulated haploinsufficiency as the disease mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19061983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a cohort of 29 Polish patients with hereditary ataxia who did not have a molecular diagnosis, <a href="#11" class="mim-tip-reference" title="Radziwonik, W., Elert-Dobkowska, E., Klimkowicz-Mrowiec, A., Ziora-Jakutowicz, K., Stepniak, I., Zaremba, J., Sulek, A. <strong>Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.</strong> J. Appl. Genet. 63: 513-525, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35588347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35588347</a>] [<a href="https://doi.org/10.1007/s13353-022-00701-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35588347">Radziwonik et al. (2022)</a> identified 2 unrelated patients with a heterozygous mutation in the SLC33A1 gene (I520T; <a href="#0007">603690.0007</a>). The mutations were identified by next-generation sequencing of a panel of 152 genes associated with hereditary ataxias and spastic paraplegias and were confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35588347" 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><strong><em>Huppke-Brendel Syndrome</em></strong></p><p>
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By linkage analysis followed by candidate gene sequencing in 3 consanguineous families with Huppke-Brendel syndrome (HPBDS; <a href="/entry/614482">614482</a>), <a href="#4" class="mim-tip-reference" title="Huppke, P., Brendel, C., Kalscheuer, V., Korenke, G. C., Marquardt, I., Freisinger, P., Christodoulou, J., Hillebrand, M., Pitelet, G., Wilson, C., Gruber-Sedlmayr, U., Ullmann, R., Haas, S., Elpeleg, O., Nurnberg, G., Nurnberg, P., Dad, S., Moller, L. B., Kaler, S. G., Gartner, J. <strong>Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.</strong> Am. J. Hum. Genet. 90: 61-68, 2012. Note: Erratum: Am. J. Hum. Genet. 90: 378 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243965[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/10.1016/j.ajhg.2011.11.030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22243965">Huppke et al. (2012)</a> identified 5 different pathogenic mutations in the SLC33A1 gene in homozygous or compound heterozygous state (<a href="#0002">603690.0002</a>-<a href="#0006">603690.0006</a>). The patients presented at birth with congenital cataracts and later showed severe psychomotor retardation with hearing loss and variable nystagmus. Laboratory studies showed decreased serum ceruloplasmin and copper, and brain MRI showed cerebral and cerebellar atrophy and hypomyelination. All patients died of various causes by age 6 years. The patients did not show evidence of total body copper deficiency or copper toxicity. Knockdown of SLC33A1 in hepatic cells caused a 30% reduction of ceruloplasmin secretion, indicating that SLC33A1 expression and ceruloplasmin secretion are connected. None of the parents who were heterozygous carriers showed signs of spastic paraplegia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22243965" 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 exome sequencing in a 7-month-old male infant, born to first-cousin Indian parents, with HPGDS, <a href="#2" class="mim-tip-reference" title="Chiplunkar, S., Bindu, P. S., Nagappa, M., Bineesh, C., Govindaraj, P., Gayathri, N., Bharath, M. M., Arvinda, H. R., Mathuranath, P. S., Sinha, S., Taly, A. B. <strong>Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1.</strong> Metab. Brain Dis. 31: 1195-1198, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27306358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27306358</a>] [<a href="https://doi.org/10.1007/s11011-016-9854-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27306358">Chiplunkar et al. (2016)</a> identified a homozygous 2-bp deletion in the SLC33A1 gene (<a href="#0008">603690.0008</a>). The unaffected parents were heterozygous for the deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27306358" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 brothers, born to consanguineous parents from Tunisia, with HPBDS, <a href="#10" class="mim-tip-reference" title="Monastiri, K., Chioukh, F. Z., Besbes, H., Ben Hmida, H. <strong>Huppke-Brendel syndrome: two new Tunisian cases. (Abstract)</strong> J. Inher. Metab. Dis. 44: 335 only, 2021."None>Monastiri et al. (2021)</a> identified homozygosity for the c.1267-1G-A mutation (<a href="#0003">603690.0003</a>) identified by <a href="#4" class="mim-tip-reference" title="Huppke, P., Brendel, C., Kalscheuer, V., Korenke, G. C., Marquardt, I., Freisinger, P., Christodoulou, J., Hillebrand, M., Pitelet, G., Wilson, C., Gruber-Sedlmayr, U., Ullmann, R., Haas, S., Elpeleg, O., Nurnberg, G., Nurnberg, P., Dad, S., Moller, L. B., Kaler, S. G., Gartner, J. <strong>Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.</strong> Am. J. Hum. Genet. 90: 61-68, 2012. Note: Erratum: Am. J. Hum. Genet. 90: 378 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243965[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/10.1016/j.ajhg.2011.11.030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22243965">Huppke et al. (2012)</a> in Tunisian sibs. <a href="#10" class="mim-tip-reference" title="Monastiri, K., Chioukh, F. Z., Besbes, H., Ben Hmida, H. <strong>Huppke-Brendel syndrome: two new Tunisian cases. (Abstract)</strong> J. Inher. Metab. Dis. 44: 335 only, 2021."None>Monastiri et al. (2021)</a> suggested the possibility of a founder effect for this mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22243965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 3-year-old girl, born to nonconsanguineous Croatian parents, with HPBDS, <a href="#12" class="mim-tip-reference" title="Sikic, K., Peters, T. M. A., Marusic, E., Cagalj, I. C., Ramadza, D. P., Zigman, T., Fumic, K., Fernandez, E., Gevaert, K., Debeljak, Z., Wevers, R. A., Baric, I. <strong>Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiency.</strong> J. Inherit. Metab. Dis. 45: 1048-1058, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35999711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35999711</a>] [<a href="https://doi.org/10.1002/jimd.12549" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35999711">Sikic et al. (2022)</a> identified a homozygous nonsense mutation (Y377X; <a href="#0009">603690.0009</a>) in the SLC33A1 gene. Both unaffected parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35999711" 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 exome sequencing in a 53-year-old Danish woman with a mild form of HPBDS, who was previously diagnosed with Wilson disease (<a href="/entry/277900">277900</a>), <a href="#7" class="mim-tip-reference" title="Kirk, F. T., Munk, D. E., Ek, J., Birk Moller, L., Bendixen Thorup, M., Hvid Danielsen, E., Vilstrup, H., Ott, P., Damgaard Sandahl, T. <strong>Case report: Huppke-Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years.</strong> Front. Neurol. 13: 957794, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36119696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36119696</a>] [<a href="https://doi.org/10.3389/fneur.2022.957794" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36119696">Kirk et al. (2022)</a> identified compound heterozygosity for mutations in the SLC33A1 gene. One variant was a T-to-C transition (c.1331T-C), resulting in an ile444-to-thr (I444T) substitution, and the other was a 3-bp deletion at position 817 (c.817_819del), resulting in deletion of threonine at codon 273. The first variant was not found in gnomAD, while the second was found 3 times in heterozygous state only. Both affected amino acids were highly evolutionarily conserved. No clinical information on the deceased parents was available. <a href="#7" class="mim-tip-reference" title="Kirk, F. T., Munk, D. E., Ek, J., Birk Moller, L., Bendixen Thorup, M., Hvid Danielsen, E., Vilstrup, H., Ott, P., Damgaard Sandahl, T. <strong>Case report: Huppke-Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years.</strong> Front. Neurol. 13: 957794, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36119696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36119696</a>] [<a href="https://doi.org/10.3389/fneur.2022.957794" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36119696">Kirk et al. (2022)</a> classified these variants as variants of uncertain significance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36119696" 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="#8" class="mim-tip-reference" title="Lin, P., Li, J., Liu, Q., Mao, F., Li, J., Qiu, R., Hu, H., Song, Y., Yang, Y., Gao, G., Yan, C., Yang, W., Shao, C., Gong, Y. <strong>A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).</strong> Am. J. Hum. Genet. 83: 752-759, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061983[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/10.1016/j.ajhg.2008.11.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19061983">Lin et al. (2008)</a> observed that knockdown of the slc33a1 gene in zebrafish resulted in a curved-tail phenotype. Spinal motoneuron axons in the mutant fish were scarce and poorly organized compared to wildtype fish. The phenotype was corrected by coinjection of human wildtype SLC33A1, but not S113R mutant SLC33A1. The findings were consistent with a loss-of-function mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19061983" 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>Bone morphogenetic proteins (see BMP1, <a href="/entry/112264">112264</a>) act in a gradient to dictate neuronal cell fate, guidance, and differentiation. <a href="#9" class="mim-tip-reference" title="Mao, F., Li, Z., Zhao, B., Lin, P., Liu, P., Zhai, M., Liu, Q., Shao, C., Sun, W., Gong, Y. <strong>Identification and functional analysis of a SLC33A1: c.339T-G (p.Ser113Arg) variant in the original SPG42 family.</strong> Hum. Mutat. 36: 240-249, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25402622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25402622</a>] [<a href="https://doi.org/10.1002/humu.22732" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25402622">Mao et al. (2015)</a> found that Slc33a1-knockdown zebrafish showed elevated Bmp signaling, as measured by phosphorylated nuclear Smad1 (<a href="/entry/601595">601595</a>)/Smad5 (<a href="/entry/603110">603110</a>)/Smad8 (SMAD9; <a href="/entry/603295">603295</a>) and elevated Bmpr1a (<a href="/entry/601299">601299</a>). Expression of wildtype human SLC33A1, but not loss-of-function mutant SLC33A1, attenuated the increase in phosphorylated Smad1/5/8 and the morphologic abnormalities, including curved tail, in Slc33a1-knockdown zebrafish. Coinjection of S113R mutant human SLC33A1 reduced the rescue effect of wildtype human SLC33A1, suggesting that the S113R mutation has a dominant-negative effect. In culture, Slc33a1-morphant spinal motor neurons showed shortened axons and increased axon branching compared with wildtype spinal neuron axons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25402622" 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 affected members of a large Chinese family with pure autosomal dominant spastic paraplegia-42 (SPG42; <a href="/entry/612539">612539</a>), <a href="#8" class="mim-tip-reference" title="Lin, P., Li, J., Liu, Q., Mao, F., Li, J., Qiu, R., Hu, H., Song, Y., Yang, Y., Gao, G., Yan, C., Yang, W., Shao, C., Gong, Y. <strong>A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).</strong> Am. J. Hum. Genet. 83: 752-759, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061983[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/10.1016/j.ajhg.2008.11.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19061983">Lin et al. (2008)</a> identified a heterozygous 339T-G transversion in exon 1 of the SLC33A1 gene, resulting in a ser113-to-arg (S113R) substitution in the beginning of the second transmembrane domain, which was predicted to reverse the orientation of all the descending domains. Residue 113 is highly conserved in evolution, and the mutation was not present in 200 controls. <a href="#8" class="mim-tip-reference" title="Lin, P., Li, J., Liu, Q., Mao, F., Li, J., Qiu, R., Hu, H., Song, Y., Yang, Y., Gao, G., Yan, C., Yang, W., Shao, C., Gong, Y. <strong>A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).</strong> Am. J. Hum. Genet. 83: 752-759, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061983[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/10.1016/j.ajhg.2008.11.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19061983">Lin et al. (2008)</a> postulated functional haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19061983" 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><strong><em>Variant Function</em></strong></p><p>
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<a href="#9" class="mim-tip-reference" title="Mao, F., Li, Z., Zhao, B., Lin, P., Liu, P., Zhai, M., Liu, Q., Shao, C., Sun, W., Gong, Y. <strong>Identification and functional analysis of a SLC33A1: c.339T-G (p.Ser113Arg) variant in the original SPG42 family.</strong> Hum. Mutat. 36: 240-249, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25402622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25402622</a>] [<a href="https://doi.org/10.1002/humu.22732" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25402622">Mao et al. (2015)</a> found that S113R mutant patient fibroblasts showed elevated BMP signaling. Expression of S113R mutant and wildtype human SLC33A1 in slc33a1-knockdown zebrafish indicated that the S113R mutation functions in a dominant-negative manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25402622" 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=RCV000023323 OR RCV000059633" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023323, RCV000059633" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023323...</a>
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<p>In a boy, born of consanguineous Arab parents, with Huppke-Brendel syndrome (HPBDS; <a href="/entry/614482">614482</a>), who was originally reported by <a href="#3" class="mim-tip-reference" title="Horvath, R., Freisinger, P., Rubio, R., Merl, T., Bax, R., Mayr, J. A., Shawan, Muller-Hocker, J., Pongratz, D., Moller, L. B., Horn, N., Jaksch, M. <strong>Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.</strong> J. Inherit. Metab. Dis. 28: 479-492, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15902551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15902551</a>] [<a href="https://doi.org/10.1007/s10545-005-0479-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15902551">Horvath et al. (2005)</a>, <a href="#4" class="mim-tip-reference" title="Huppke, P., Brendel, C., Kalscheuer, V., Korenke, G. C., Marquardt, I., Freisinger, P., Christodoulou, J., Hillebrand, M., Pitelet, G., Wilson, C., Gruber-Sedlmayr, U., Ullmann, R., Haas, S., Elpeleg, O., Nurnberg, G., Nurnberg, P., Dad, S., Moller, L. B., Kaler, S. G., Gartner, J. <strong>Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.</strong> Am. J. Hum. Genet. 90: 61-68, 2012. Note: Erratum: Am. J. Hum. Genet. 90: 378 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243965[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/10.1016/j.ajhg.2011.11.030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22243965">Huppke et al. (2012)</a> identified a homozygous 328G-C transversion in exon 1 of the SLC33A1 gene, resulting in an ala110-to-pro (A110P) substitution in a highly conserved residue. The substitution was predicted to cause a structural change in the first and second transmembrane domains. The mutation was not found in 122 controls. RT-PCR of patient fibroblasts showed that the mutant protein was present at normal levels. However, the mutant protein failed to localize normally to the Golgi apparatus and instead showed punctate staining in the cytoplasm. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15902551+22243965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1577455897 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1577455897;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=rs1577455897" 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=rs1577455897" 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 Tunisian brother and sister, born of consanguineous parents, with Huppke-Brendel syndrome (HPBDS; <a href="/entry/614482">614482</a>), <a href="#4" class="mim-tip-reference" title="Huppke, P., Brendel, C., Kalscheuer, V., Korenke, G. C., Marquardt, I., Freisinger, P., Christodoulou, J., Hillebrand, M., Pitelet, G., Wilson, C., Gruber-Sedlmayr, U., Ullmann, R., Haas, S., Elpeleg, O., Nurnberg, G., Nurnberg, P., Dad, S., Moller, L. B., Kaler, S. G., Gartner, J. <strong>Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.</strong> Am. J. Hum. Genet. 90: 61-68, 2012. Note: Erratum: Am. J. Hum. Genet. 90: 378 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243965[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/10.1016/j.ajhg.2011.11.030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22243965">Huppke et al. (2012)</a> identified a homozygous G-to-A transition in intron 5 of the SLC33A1 gene (c.1267-1G-A), resulting in partial or complete loss of exon 5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22243965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 brothers with HPBDS born to consanguineous Tunisian parents, <a href="#10" class="mim-tip-reference" title="Monastiri, K., Chioukh, F. Z., Besbes, H., Ben Hmida, H. <strong>Huppke-Brendel syndrome: two new Tunisian cases. (Abstract)</strong> J. Inher. Metab. Dis. 44: 335 only, 2021."None>Monastiri et al. (2021)</a> found homozygosity for the c.1267-1G-A mutation identified by <a href="#4" class="mim-tip-reference" title="Huppke, P., Brendel, C., Kalscheuer, V., Korenke, G. C., Marquardt, I., Freisinger, P., Christodoulou, J., Hillebrand, M., Pitelet, G., Wilson, C., Gruber-Sedlmayr, U., Ullmann, R., Haas, S., Elpeleg, O., Nurnberg, G., Nurnberg, P., Dad, S., Moller, L. B., Kaler, S. G., Gartner, J. <strong>Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.</strong> Am. J. Hum. Genet. 90: 61-68, 2012. Note: Erratum: Am. J. Hum. Genet. 90: 378 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243965[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/10.1016/j.ajhg.2011.11.030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22243965">Huppke et al. (2012)</a> in Tunisian sibs. <a href="#10" class="mim-tip-reference" title="Monastiri, K., Chioukh, F. Z., Besbes, H., Ben Hmida, H. <strong>Huppke-Brendel syndrome: two new Tunisian cases. (Abstract)</strong> J. Inher. Metab. Dis. 44: 335 only, 2021."None>Monastiri et al. (2021)</a> suggested the possibility of a founder effect for this mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22243965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1308995894 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1308995894;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/rs1308995894?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=rs1308995894" 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=rs1308995894" 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 Turkish boy, born of consanguineous parents, with Huppke-Brendel syndrome (HPBDS; <a href="/entry/614482">614482</a>), <a href="#4" class="mim-tip-reference" title="Huppke, P., Brendel, C., Kalscheuer, V., Korenke, G. C., Marquardt, I., Freisinger, P., Christodoulou, J., Hillebrand, M., Pitelet, G., Wilson, C., Gruber-Sedlmayr, U., Ullmann, R., Haas, S., Elpeleg, O., Nurnberg, G., Nurnberg, P., Dad, S., Moller, L. B., Kaler, S. G., Gartner, J. <strong>Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.</strong> Am. J. Hum. Genet. 90: 61-68, 2012. Note: Erratum: Am. J. Hum. Genet. 90: 378 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243965[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/10.1016/j.ajhg.2011.11.030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22243965">Huppke et al. (2012)</a> identified a homozygous 1098C-G transversion in exon 3 of the SLC33A1 gene, resulting in a tyr366-to-ter (Y366X) substitution. There was significantly reduced gene expression in patient fibroblasts, likely due to nonsense-mediated mRNA decay. However, a shortened protein was detected in the cytoplasm, where it colocalized with markers for the endoplasmic reticulum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22243965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the Turkish boy reported by <a href="#4" class="mim-tip-reference" title="Huppke, P., Brendel, C., Kalscheuer, V., Korenke, G. C., Marquardt, I., Freisinger, P., Christodoulou, J., Hillebrand, M., Pitelet, G., Wilson, C., Gruber-Sedlmayr, U., Ullmann, R., Haas, S., Elpeleg, O., Nurnberg, G., Nurnberg, P., Dad, S., Moller, L. B., Kaler, S. G., Gartner, J. <strong>Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.</strong> Am. J. Hum. Genet. 90: 61-68, 2012. Note: Erratum: Am. J. Hum. Genet. 90: 378 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243965[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/10.1016/j.ajhg.2011.11.030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22243965">Huppke et al. (2012)</a>, <a href="#5" class="mim-tip-reference" title="Huppke, P., Brendel, C., Korenke, G. C., Marquardt, I., Donsante, A., Yi, L., Hicks, J. D., Steinbach, P. J., Wilson, C., Elpeleg, O., Moller, L. B., Christodoulou, J., Kaler, S. G., Gartner, J. <strong>Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.</strong> Hum. Mutat. 33: 1207-1215, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22508683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22508683</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22508683[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/10.1002/humu.22099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22508683">Huppke et al. (2012)</a> identified a homozygous variation in the CCS gene (R163W; <a href="/entry/603864#0001">603864.0001</a>) that resulted in decreased CCS and SOD1 (<a href="/entry/147450">147450</a>) activity. Patient fibroblasts also showed evidence of the unfolded protein response, which may reflect cellular oxidative stress. <a href="#5" class="mim-tip-reference" title="Huppke, P., Brendel, C., Korenke, G. C., Marquardt, I., Donsante, A., Yi, L., Hicks, J. D., Steinbach, P. J., Wilson, C., Elpeleg, O., Moller, L. B., Christodoulou, J., Kaler, S. G., Gartner, J. <strong>Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.</strong> Hum. Mutat. 33: 1207-1215, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22508683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22508683</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22508683[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/10.1002/humu.22099" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22508683">Huppke et al. (2012)</a> suggested that a defect in copper homeostasis or SOD1 deficiency may have contributed to the phenotype. This patient had additional symptoms not present in the other patients with SLC33A1 mutations, including neonatal hypotonia, hypoglycemia, and a pericardial effusion. At age 18 months, he had rapid developmental regression and epilepsy with persistent bilateral thalamic lesions on brain MRI. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22508683+22243965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a boy from New Zealand with Huppke-Brendel syndrome (HPBDS; <a href="/entry/614482">614482</a>), <a href="#4" class="mim-tip-reference" title="Huppke, P., Brendel, C., Kalscheuer, V., Korenke, G. C., Marquardt, I., Freisinger, P., Christodoulou, J., Hillebrand, M., Pitelet, G., Wilson, C., Gruber-Sedlmayr, U., Ullmann, R., Haas, S., Elpeleg, O., Nurnberg, G., Nurnberg, P., Dad, S., Moller, L. B., Kaler, S. G., Gartner, J. <strong>Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.</strong> Am. J. Hum. Genet. 90: 61-68, 2012. Note: Erratum: Am. J. Hum. Genet. 90: 378 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243965[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/10.1016/j.ajhg.2011.11.030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22243965">Huppke et al. (2012)</a> identified compound heterozygosity for 2 mutations in the SLC33A1 gene: a 1-bp insertion (614_615insT) in exon 1, resulting in premature termination, and an 18-bp deletion (1474_1482+9del) leading to the loss of 3 amino acids and 9 bp in intron 5, including the donor splice site (<a href="#0006">603690.0006</a>). RT-PCR of patient fibroblasts showed about 20% SLC33A1 mRNA levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22243965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1577455542 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1577455542;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=rs1577455542" 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=rs1577455542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the 18-bp deletion in the SLC33A1 gene (1474_1482+9del) that was found in compound heterozygous state in a patient with Huppke-Brendel syndrome (HPBDS; <a href="/entry/614482">614482</a>) by <a href="#4" class="mim-tip-reference" title="Huppke, P., Brendel, C., Kalscheuer, V., Korenke, G. C., Marquardt, I., Freisinger, P., Christodoulou, J., Hillebrand, M., Pitelet, G., Wilson, C., Gruber-Sedlmayr, U., Ullmann, R., Haas, S., Elpeleg, O., Nurnberg, G., Nurnberg, P., Dad, S., Moller, L. B., Kaler, S. G., Gartner, J. <strong>Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.</strong> Am. J. Hum. Genet. 90: 61-68, 2012. Note: Erratum: Am. J. Hum. Genet. 90: 378 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243965[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/10.1016/j.ajhg.2011.11.030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22243965">Huppke et al. (2012)</a>, see <a href="#0005">603690.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22243965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs777143987 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs777143987;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/rs777143987?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=rs777143987" 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=rs777143987" 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=RCV001347908 OR RCV001847248 OR RCV003444154" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001347908, RCV001847248, RCV003444154" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001347908...</a>
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<p>In 2 unrelated Polish patients (patients SA and BJ) with autosomal dominant spastic paraplegia-42 (SPG42; <a href="/entry/612539">612539</a>), <a href="#11" class="mim-tip-reference" title="Radziwonik, W., Elert-Dobkowska, E., Klimkowicz-Mrowiec, A., Ziora-Jakutowicz, K., Stepniak, I., Zaremba, J., Sulek, A. <strong>Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.</strong> J. Appl. Genet. 63: 513-525, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35588347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35588347</a>] [<a href="https://doi.org/10.1007/s13353-022-00701-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35588347">Radziwonik et al. (2022)</a> identified heterozygosity for a c.1559T-C transition (c.1559T-C, NM_004733.3) in the SLC33A1 gene, resulting in an ile520-to-thr (I520T) substitution. The mutation was identified by next-generation sequencing of a panel of 152 genes associated with hereditary ataxias and spastic paraplegias and was confirmed by Sanger sequencing. Functional testing in patient cells was not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35588347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1577482029 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1577482029;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=rs1577482029" 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=rs1577482029" 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=RCV000845254" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000845254" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000845254</a>
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<p>In a 7-month-old boy, born to first-cousin Indian parents, with Huppke-Brendel syndrome (HPBDS; <a href="/entry/614482">614482</a>), <a href="#2" class="mim-tip-reference" title="Chiplunkar, S., Bindu, P. S., Nagappa, M., Bineesh, C., Govindaraj, P., Gayathri, N., Bharath, M. M., Arvinda, H. R., Mathuranath, P. S., Sinha, S., Taly, A. B. <strong>Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1.</strong> Metab. Brain Dis. 31: 1195-1198, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27306358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27306358</a>] [<a href="https://doi.org/10.1007/s11011-016-9854-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27306358">Chiplunkar et al. (2016)</a> identified homozygosity for a 2-bp deletion at position 542 (c.542_543delTG) in exon 1 of the SLC33A1 gene. The mutation was identified by exome sequencing and was present in heterozygosity in both unaffected parents. The mutation was predicted to result in a frameshift and premature termination (Val181GlyfsTer6). Functional studies of the mutation were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27306358" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2109312898 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2109312898;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=rs2109312898" 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=rs2109312898" 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=RCV001382086 OR RCV003771242" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001382086, RCV003771242" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001382086...</a>
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<p>In a 3-year-old girl, born to nonconsanguineous Croatian parents, with Huppke-Brendel syndrome (HPBDS; <a href="/entry/614482">614482</a>), <a href="#12" class="mim-tip-reference" title="Sikic, K., Peters, T. M. A., Marusic, E., Cagalj, I. C., Ramadza, D. P., Zigman, T., Fumic, K., Fernandez, E., Gevaert, K., Debeljak, Z., Wevers, R. A., Baric, I. <strong>Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiency.</strong> J. Inherit. Metab. Dis. 45: 1048-1058, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35999711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35999711</a>] [<a href="https://doi.org/10.1002/jimd.12549" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35999711">Sikic et al. (2022)</a> identified homozygosity for a c.1131C-G transversion in the SLC33A1 gene, resulting in a tyr377-to-ter (Y377X) substitution. The mutation was identified by targeted sequencing. Both unaffected parents were heterozygous for the mutation. Functional studies of the mutation were not performed. Although N-terminal protein acetylation and acetyl-CoA levels in fibroblasts appeared normal, the authors found decreased levels of many N-acetylated amino acids in the cerebrospinal fluid and suggested that these could be potential biomarkers for the condition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35999711" 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>Assignment of a putative acetyl-CoA transporter gene (Acatn) to mouse chromosome band 3E1-E3 by in situ hybridization.</strong>
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Cytogenet. Cell Genet. 83: 78-79, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9925934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9925934</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9925934" 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/10.1159/000015132" target="_blank">Full Text</a>]
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Chiplunkar, S., Bindu, P. S., Nagappa, M., Bineesh, C., Govindaraj, P., Gayathri, N., Bharath, M. M., Arvinda, H. R., Mathuranath, P. S., Sinha, S., Taly, A. B.
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<strong>Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1.</strong>
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Metab. Brain Dis. 31: 1195-1198, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27306358/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27306358</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27306358" 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/s11011-016-9854-6" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Horvath2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Horvath, R., Freisinger, P., Rubio, R., Merl, T., Bax, R., Mayr, J. A., Shawan, Muller-Hocker, J., Pongratz, D., Moller, L. B., Horn, N., Jaksch, M.
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<strong>Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.</strong>
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J. Inherit. Metab. Dis. 28: 479-492, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15902551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15902551</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15902551" 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/s10545-005-0479-x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Huppke2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Huppke, P., Brendel, C., Kalscheuer, V., Korenke, G. C., Marquardt, I., Freisinger, P., Christodoulou, J., Hillebrand, M., Pitelet, G., Wilson, C., Gruber-Sedlmayr, U., Ullmann, R., Haas, S., Elpeleg, O., Nurnberg, G., Nurnberg, P., Dad, S., Moller, L. B., Kaler, S. G., Gartner, J.
|
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<strong>Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.</strong>
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Am. J. Hum. Genet. 90: 61-68, 2012. Note: Erratum: Am. J. Hum. Genet. 90: 378 only, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243965</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243965[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=22243965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2011.11.030" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Huppke2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Huppke, P., Brendel, C., Korenke, G. C., Marquardt, I., Donsante, A., Yi, L., Hicks, J. D., Steinbach, P. J., Wilson, C., Elpeleg, O., Moller, L. B., Christodoulou, J., Kaler, S. G., Gartner, J.
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<strong>Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.</strong>
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Hum. Mutat. 33: 1207-1215, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22508683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22508683</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22508683[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=22508683" 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/10.1002/humu.22099" target="_blank">Full Text</a>]
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Kanamori1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kanamori, A., Nakayama, J., Fukuda, M. N., Stallcup, W. B., Sasaki, K., Fukuda, M., Hirabayashi, Y.
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<strong>Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated ganglioside: a putative acetyl-CoA transporter.</strong>
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Proc. Nat. Acad. Sci. 94: 2897-2902, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9096318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9096318</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9096318[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=9096318" 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.94.7.2897" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Kirk2022" class="mim-anchor"></a>
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Kirk, F. T., Munk, D. E., Ek, J., Birk Moller, L., Bendixen Thorup, M., Hvid Danielsen, E., Vilstrup, H., Ott, P., Damgaard Sandahl, T.
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<strong>Case report: Huppke-Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years.</strong>
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Front. Neurol. 13: 957794, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36119696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36119696</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36119696" 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/10.3389/fneur.2022.957794" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Lin2008" class="mim-anchor"></a>
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<div class="">
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Lin, P., Li, J., Liu, Q., Mao, F., Li, J., Qiu, R., Hu, H., Song, Y., Yang, Y., Gao, G., Yan, C., Yang, W., Shao, C., Gong, Y.
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<strong>A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).</strong>
|
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Am. J. Hum. Genet. 83: 752-759, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061983</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061983[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=19061983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2008.11.003" target="_blank">Full Text</a>]
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Mao2015" class="mim-anchor"></a>
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Mao, F., Li, Z., Zhao, B., Lin, P., Liu, P., Zhai, M., Liu, Q., Shao, C., Sun, W., Gong, Y.
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<strong>Identification and functional analysis of a SLC33A1: c.339T-G (p.Ser113Arg) variant in the original SPG42 family.</strong>
|
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Hum. Mutat. 36: 240-249, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25402622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25402622</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25402622" 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/10.1002/humu.22732" target="_blank">Full Text</a>]
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<a id="Monastiri2021" class="mim-anchor"></a>
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Monastiri, K., Chioukh, F. Z., Besbes, H., Ben Hmida, H.
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<strong>Huppke-Brendel syndrome: two new Tunisian cases. (Abstract)</strong>
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J. Inher. Metab. Dis. 44: 335 only, 2021.
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<a id="Radziwonik2022" class="mim-anchor"></a>
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Radziwonik, W., Elert-Dobkowska, E., Klimkowicz-Mrowiec, A., Ziora-Jakutowicz, K., Stepniak, I., Zaremba, J., Sulek, A.
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<strong>Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.</strong>
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J. Appl. Genet. 63: 513-525, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35588347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35588347</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35588347" 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/s13353-022-00701-3" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Sikic2022" class="mim-anchor"></a>
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Sikic, K., Peters, T. M. A., Marusic, E., Cagalj, I. C., Ramadza, D. P., Zigman, T., Fumic, K., Fernandez, E., Gevaert, K., Debeljak, Z., Wevers, R. A., Baric, I.
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<strong>Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiency.</strong>
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J. Inherit. Metab. Dis. 45: 1048-1058, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35999711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35999711</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35999711" 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/10.1002/jimd.12549" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 02/16/2024
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 11/28/2023<br>Patricia A. Hartz - updated : 8/24/2015<br>Cassandra L. Kniffin - updated : 9/4/2012<br>Cassandra L. Kniffin - updated : 2/14/2012<br>Cassandra L. Kniffin - updated : 1/16/2009<br>Carol A. Bocchini - updated : 12/3/2002
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Creation Date:
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<span class="mim-text-font">
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Rebekah S. Rasooly : 4/1/1999
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alopez : 03/12/2024
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alopez : 03/12/2024<br>carol : 03/01/2024<br>alopez : 02/16/2024<br>carol : 11/28/2023<br>carol : 11/07/2023<br>carol : 09/27/2016<br>carol : 09/15/2015<br>mgross : 8/24/2015<br>mcolton : 8/24/2015<br>mcolton : 8/17/2015<br>carol : 9/5/2012<br>ckniffin : 9/4/2012<br>carol : 3/2/2012<br>carol : 3/1/2012<br>carol : 2/17/2012<br>ckniffin : 2/14/2012<br>carol : 1/22/2009<br>ckniffin : 1/16/2009<br>carol : 12/3/2002<br>alopez : 5/24/1999<br>alopez : 4/1/1999
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<strong>*</strong> 603690
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SOLUTE CARRIER FAMILY 33 (ACETYL-CoA TRANSPORTER), MEMBER 1; SLC33A1
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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ACETYL-CoA TRANSPORTER; ACATN<br />
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AT1
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SLC33A1</em></strong>
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<strong>SNOMEDCT:</strong> 763070001, 773648002;
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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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<p>
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<span class="mim-text-font">
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<strong>
|
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<em>
|
|
Cytogenetic location: 3q25.31
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 3:155,821,024-155,854,427 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</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">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
3q25.31
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Huppke-Brendel syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
614482
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Spastic paraplegia 42, autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
612539
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The structural diversity and complexity of sugar chains in membrane gangliosides are caused in part by the occurrence of several different species of sialic acid molecules, including O-acetylated forms. Acetylation of sialic acid residues of glycoproteins and gangliosides occurs in the lumen of the Golgi apparatus, using acetyl-CoA as the acetate donor. By expression cloning, Kanamori et al. (1997) isolated a human melanoma cell line cDNA encoding AT1, a protein that directed the formation of 9-O-acetylated ganglioside GD3 in mammalian cells. The predicted 549-amino acid protein contained 6 to 10 transmembrane domains and a leucine zipper motif in transmembrane domain III. Immunofluorescence experiments indicated that the 58-kD protein is localized to the cytoplasm. Using in vitro assays with semi-intact cells, Kanamori et al. (1997) demonstrated that the AT1 protein functioned as an acetyl-CoA transporter. Northern blot analysis revealed that AT1 was expressed as 3.3- and 4.3-kb mRNAs in all tissues tested. </p><p>In various cellular studies, Huppke et al. (2012) found that the SLC33A1 protein showed a perinuclear cytoplasmic distribution and localized to the Golgi apparatus. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Lin et al. (2008) reported that the SLC33A1 gene has 6 coding exons. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Lin et al. (2008) reported that the SLC33A1 gene maps to chromosome 3q25.1. </p><p>By fluorescence in situ hybridization, Bora et al. (1998) mapped the Acatn gene to mouse chromosome 3E1-E3. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Kanamori et al. (1997) concluded that AT1 is an acetyl-CoA transporter that is involved in the process of O-acetylation. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Spastic Paraplegia 42, Autosomal Dominant</em></strong></p><p>
|
|
In affected members of a Chinese family with autosomal dominant spastic paraplegia-42 (SPG42; 612539), Lin et al. (2008) identified a heterozygous mutation in the SLC33A1 gene (603690.0001). The authors postulated haploinsufficiency as the disease mechanism. </p><p>In a cohort of 29 Polish patients with hereditary ataxia who did not have a molecular diagnosis, Radziwonik et al. (2022) identified 2 unrelated patients with a heterozygous mutation in the SLC33A1 gene (I520T; 603690.0007). The mutations were identified by next-generation sequencing of a panel of 152 genes associated with hereditary ataxias and spastic paraplegias and were confirmed by Sanger sequencing. </p><p><strong><em>Huppke-Brendel Syndrome</em></strong></p><p>
|
|
By linkage analysis followed by candidate gene sequencing in 3 consanguineous families with Huppke-Brendel syndrome (HPBDS; 614482), Huppke et al. (2012) identified 5 different pathogenic mutations in the SLC33A1 gene in homozygous or compound heterozygous state (603690.0002-603690.0006). The patients presented at birth with congenital cataracts and later showed severe psychomotor retardation with hearing loss and variable nystagmus. Laboratory studies showed decreased serum ceruloplasmin and copper, and brain MRI showed cerebral and cerebellar atrophy and hypomyelination. All patients died of various causes by age 6 years. The patients did not show evidence of total body copper deficiency or copper toxicity. Knockdown of SLC33A1 in hepatic cells caused a 30% reduction of ceruloplasmin secretion, indicating that SLC33A1 expression and ceruloplasmin secretion are connected. None of the parents who were heterozygous carriers showed signs of spastic paraplegia. </p><p>By exome sequencing in a 7-month-old male infant, born to first-cousin Indian parents, with HPGDS, Chiplunkar et al. (2016) identified a homozygous 2-bp deletion in the SLC33A1 gene (603690.0008). The unaffected parents were heterozygous for the deletion. </p><p>In 2 brothers, born to consanguineous parents from Tunisia, with HPBDS, Monastiri et al. (2021) identified homozygosity for the c.1267-1G-A mutation (603690.0003) identified by Huppke et al. (2012) in Tunisian sibs. Monastiri et al. (2021) suggested the possibility of a founder effect for this mutation. </p><p>In a 3-year-old girl, born to nonconsanguineous Croatian parents, with HPBDS, Sikic et al. (2022) identified a homozygous nonsense mutation (Y377X; 603690.0009) in the SLC33A1 gene. Both unaffected parents were heterozygous for the mutation. </p><p>By exome sequencing in a 53-year-old Danish woman with a mild form of HPBDS, who was previously diagnosed with Wilson disease (277900), Kirk et al. (2022) identified compound heterozygosity for mutations in the SLC33A1 gene. One variant was a T-to-C transition (c.1331T-C), resulting in an ile444-to-thr (I444T) substitution, and the other was a 3-bp deletion at position 817 (c.817_819del), resulting in deletion of threonine at codon 273. The first variant was not found in gnomAD, while the second was found 3 times in heterozygous state only. Both affected amino acids were highly evolutionarily conserved. No clinical information on the deceased parents was available. Kirk et al. (2022) classified these variants as variants of uncertain significance. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Lin et al. (2008) observed that knockdown of the slc33a1 gene in zebrafish resulted in a curved-tail phenotype. Spinal motoneuron axons in the mutant fish were scarce and poorly organized compared to wildtype fish. The phenotype was corrected by coinjection of human wildtype SLC33A1, but not S113R mutant SLC33A1. The findings were consistent with a loss-of-function mechanism. </p><p>Bone morphogenetic proteins (see BMP1, 112264) act in a gradient to dictate neuronal cell fate, guidance, and differentiation. Mao et al. (2015) found that Slc33a1-knockdown zebrafish showed elevated Bmp signaling, as measured by phosphorylated nuclear Smad1 (601595)/Smad5 (603110)/Smad8 (SMAD9; 603295) and elevated Bmpr1a (601299). Expression of wildtype human SLC33A1, but not loss-of-function mutant SLC33A1, attenuated the increase in phosphorylated Smad1/5/8 and the morphologic abnormalities, including curved tail, in Slc33a1-knockdown zebrafish. Coinjection of S113R mutant human SLC33A1 reduced the rescue effect of wildtype human SLC33A1, suggesting that the S113R mutation has a dominant-negative effect. In culture, Slc33a1-morphant spinal motor neurons showed shortened axons and increased axon branching compared with wildtype spinal neuron axons. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>9 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC33A1, SER113ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121909484,
|
|
|
|
|
|
|
|
ClinVar: RCV000006506
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large Chinese family with pure autosomal dominant spastic paraplegia-42 (SPG42; 612539), Lin et al. (2008) identified a heterozygous 339T-G transversion in exon 1 of the SLC33A1 gene, resulting in a ser113-to-arg (S113R) substitution in the beginning of the second transmembrane domain, which was predicted to reverse the orientation of all the descending domains. Residue 113 is highly conserved in evolution, and the mutation was not present in 200 controls. Lin et al. (2008) postulated functional haploinsufficiency. </p><p><strong><em>Variant Function</em></strong></p><p>
|
|
Mao et al. (2015) found that S113R mutant patient fibroblasts showed elevated BMP signaling. Expression of S113R mutant and wildtype human SLC33A1 in slc33a1-knockdown zebrafish indicated that the S113R mutation functions in a dominant-negative manner. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 HUPPKE-BRENDEL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC33A1, ALA110PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281875283,
|
|
|
|
|
|
|
|
ClinVar: RCV000023323, RCV000059633
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy, born of consanguineous Arab parents, with Huppke-Brendel syndrome (HPBDS; 614482), who was originally reported by Horvath et al. (2005), Huppke et al. (2012) identified a homozygous 328G-C transversion in exon 1 of the SLC33A1 gene, resulting in an ala110-to-pro (A110P) substitution in a highly conserved residue. The substitution was predicted to cause a structural change in the first and second transmembrane domains. The mutation was not found in 122 controls. RT-PCR of patient fibroblasts showed that the mutant protein was present at normal levels. However, the mutant protein failed to localize normally to the Golgi apparatus and instead showed punctate staining in the cytoplasm. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 HUPPKE-BRENDEL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC33A1, IVS5AS, G-A, -1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1577455897,
|
|
|
|
|
|
|
|
ClinVar: RCV000845256
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Tunisian brother and sister, born of consanguineous parents, with Huppke-Brendel syndrome (HPBDS; 614482), Huppke et al. (2012) identified a homozygous G-to-A transition in intron 5 of the SLC33A1 gene (c.1267-1G-A), resulting in partial or complete loss of exon 5. </p><p>In 2 brothers with HPBDS born to consanguineous Tunisian parents, Monastiri et al. (2021) found homozygosity for the c.1267-1G-A mutation identified by Huppke et al. (2012) in Tunisian sibs. Monastiri et al. (2021) suggested the possibility of a founder effect for this mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 HUPPKE-BRENDEL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC33A1, TYR366TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1308995894,
|
|
|
|
|
|
gnomAD: rs1308995894,
|
|
|
|
|
|
ClinVar: RCV000845255
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Turkish boy, born of consanguineous parents, with Huppke-Brendel syndrome (HPBDS; 614482), Huppke et al. (2012) identified a homozygous 1098C-G transversion in exon 3 of the SLC33A1 gene, resulting in a tyr366-to-ter (Y366X) substitution. There was significantly reduced gene expression in patient fibroblasts, likely due to nonsense-mediated mRNA decay. However, a shortened protein was detected in the cytoplasm, where it colocalized with markers for the endoplasmic reticulum. </p><p>In the Turkish boy reported by Huppke et al. (2012), Huppke et al. (2012) identified a homozygous variation in the CCS gene (R163W; 603864.0001) that resulted in decreased CCS and SOD1 (147450) activity. Patient fibroblasts also showed evidence of the unfolded protein response, which may reflect cellular oxidative stress. Huppke et al. (2012) suggested that a defect in copper homeostasis or SOD1 deficiency may have contributed to the phenotype. This patient had additional symptoms not present in the other patients with SLC33A1 mutations, including neonatal hypotonia, hypoglycemia, and a pericardial effusion. At age 18 months, he had rapid developmental regression and epilepsy with persistent bilateral thalamic lesions on brain MRI. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 HUPPKE-BRENDEL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC33A1, 1-BP INS, 614T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs863223316,
|
|
|
|
|
|
|
|
ClinVar: RCV000023326
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy from New Zealand with Huppke-Brendel syndrome (HPBDS; 614482), Huppke et al. (2012) identified compound heterozygosity for 2 mutations in the SLC33A1 gene: a 1-bp insertion (614_615insT) in exon 1, resulting in premature termination, and an 18-bp deletion (1474_1482+9del) leading to the loss of 3 amino acids and 9 bp in intron 5, including the donor splice site (603690.0006). RT-PCR of patient fibroblasts showed about 20% SLC33A1 mRNA levels. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 HUPPKE-BRENDEL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
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SLC33A1, 18-BP DEL, NT1474
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<br />
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SNP: rs1577455542,
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ClinVar: RCV000845257
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<span class="mim-text-font">
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<p>For discussion of the 18-bp deletion in the SLC33A1 gene (1474_1482+9del) that was found in compound heterozygous state in a patient with Huppke-Brendel syndrome (HPBDS; 614482) by Huppke et al. (2012), see 603690.0005. </p>
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<h4>
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<span class="mim-font">
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<strong>.0007 SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT</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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SLC33A1, ILE520THR
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<br />
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SNP: rs777143987,
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gnomAD: rs777143987,
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ClinVar: RCV001347908, RCV001847248, RCV003444154
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</span>
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<span class="mim-text-font">
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<p>In 2 unrelated Polish patients (patients SA and BJ) with autosomal dominant spastic paraplegia-42 (SPG42; 612539), Radziwonik et al. (2022) identified heterozygosity for a c.1559T-C transition (c.1559T-C, NM_004733.3) in the SLC33A1 gene, resulting in an ile520-to-thr (I520T) substitution. The mutation was identified by next-generation sequencing of a panel of 152 genes associated with hereditary ataxias and spastic paraplegias and was confirmed by Sanger sequencing. Functional testing in patient cells was not performed. </p>
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</span>
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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>.0008 HUPPKE-BRENDEL SYNDROME</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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SLC33A1, 2-BP DEL, 542TG
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<br />
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SNP: rs1577482029,
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ClinVar: RCV000845254
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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 7-month-old boy, born to first-cousin Indian parents, with Huppke-Brendel syndrome (HPBDS; 614482), Chiplunkar et al. (2016) identified homozygosity for a 2-bp deletion at position 542 (c.542_543delTG) in exon 1 of the SLC33A1 gene. The mutation was identified by exome sequencing and was present in heterozygosity in both unaffected parents. The mutation was predicted to result in a frameshift and premature termination (Val181GlyfsTer6). Functional studies of the mutation were not performed. </p>
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</span>
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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>.0009 HUPPKE-BRENDEL SYNDROME</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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SLC33A1, TYR377TER
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<br />
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SNP: rs2109312898,
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ClinVar: RCV001382086, RCV003771242
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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 3-year-old girl, born to nonconsanguineous Croatian parents, with Huppke-Brendel syndrome (HPBDS; 614482), Sikic et al. (2022) identified homozygosity for a c.1131C-G transversion in the SLC33A1 gene, resulting in a tyr377-to-ter (Y377X) substitution. The mutation was identified by targeted sequencing. Both unaffected parents were heterozygous for the mutation. Functional studies of the mutation were not performed. Although N-terminal protein acetylation and acetyl-CoA levels in fibroblasts appeared normal, the authors found decreased levels of many N-acetylated amino acids in the cerebrospinal fluid and suggested that these could be potential biomarkers for the condition. </p>
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</span>
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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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Bora, R. S., Kanamori, A., Hirabayashi, Y.
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<strong>Assignment of a putative acetyl-CoA transporter gene (Acatn) to mouse chromosome band 3E1-E3 by in situ hybridization.</strong>
|
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Cytogenet. Cell Genet. 83: 78-79, 1998.
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[PubMed: 9925934]
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[Full Text: https://doi.org/10.1159/000015132]
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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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Chiplunkar, S., Bindu, P. S., Nagappa, M., Bineesh, C., Govindaraj, P., Gayathri, N., Bharath, M. M., Arvinda, H. R., Mathuranath, P. S., Sinha, S., Taly, A. B.
|
|
<strong>Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1.</strong>
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Metab. Brain Dis. 31: 1195-1198, 2016.
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[PubMed: 27306358]
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[Full Text: https://doi.org/10.1007/s11011-016-9854-6]
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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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Horvath, R., Freisinger, P., Rubio, R., Merl, T., Bax, R., Mayr, J. A., Shawan, Muller-Hocker, J., Pongratz, D., Moller, L. B., Horn, N., Jaksch, M.
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<strong>Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.</strong>
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J. Inherit. Metab. Dis. 28: 479-492, 2005.
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[PubMed: 15902551]
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[Full Text: https://doi.org/10.1007/s10545-005-0479-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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Huppke, P., Brendel, C., Kalscheuer, V., Korenke, G. C., Marquardt, I., Freisinger, P., Christodoulou, J., Hillebrand, M., Pitelet, G., Wilson, C., Gruber-Sedlmayr, U., Ullmann, R., Haas, S., Elpeleg, O., Nurnberg, G., Nurnberg, P., Dad, S., Moller, L. B., Kaler, S. G., Gartner, J.
|
|
<strong>Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.</strong>
|
|
Am. J. Hum. Genet. 90: 61-68, 2012. Note: Erratum: Am. J. Hum. Genet. 90: 378 only, 2012.
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[PubMed: 22243965]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.11.030]
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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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Huppke, P., Brendel, C., Korenke, G. C., Marquardt, I., Donsante, A., Yi, L., Hicks, J. D., Steinbach, P. J., Wilson, C., Elpeleg, O., Moller, L. B., Christodoulou, J., Kaler, S. G., Gartner, J.
|
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<strong>Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.</strong>
|
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Hum. Mutat. 33: 1207-1215, 2012.
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[PubMed: 22508683]
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[Full Text: https://doi.org/10.1002/humu.22099]
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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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Kanamori, A., Nakayama, J., Fukuda, M. N., Stallcup, W. B., Sasaki, K., Fukuda, M., Hirabayashi, Y.
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<strong>Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated ganglioside: a putative acetyl-CoA transporter.</strong>
|
|
Proc. Nat. Acad. Sci. 94: 2897-2902, 1997.
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[PubMed: 9096318]
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[Full Text: https://doi.org/10.1073/pnas.94.7.2897]
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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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Kirk, F. T., Munk, D. E., Ek, J., Birk Moller, L., Bendixen Thorup, M., Hvid Danielsen, E., Vilstrup, H., Ott, P., Damgaard Sandahl, T.
|
|
<strong>Case report: Huppke-Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years.</strong>
|
|
Front. Neurol. 13: 957794, 2022.
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[PubMed: 36119696]
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[Full Text: https://doi.org/10.3389/fneur.2022.957794]
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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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Lin, P., Li, J., Liu, Q., Mao, F., Li, J., Qiu, R., Hu, H., Song, Y., Yang, Y., Gao, G., Yan, C., Yang, W., Shao, C., Gong, Y.
|
|
<strong>A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).</strong>
|
|
Am. J. Hum. Genet. 83: 752-759, 2008.
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[PubMed: 19061983]
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[Full Text: https://doi.org/10.1016/j.ajhg.2008.11.003]
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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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Mao, F., Li, Z., Zhao, B., Lin, P., Liu, P., Zhai, M., Liu, Q., Shao, C., Sun, W., Gong, Y.
|
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<strong>Identification and functional analysis of a SLC33A1: c.339T-G (p.Ser113Arg) variant in the original SPG42 family.</strong>
|
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Hum. Mutat. 36: 240-249, 2015.
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[PubMed: 25402622]
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[Full Text: https://doi.org/10.1002/humu.22732]
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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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Monastiri, K., Chioukh, F. Z., Besbes, H., Ben Hmida, H.
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<strong>Huppke-Brendel syndrome: two new Tunisian cases. (Abstract)</strong>
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J. Inher. Metab. Dis. 44: 335 only, 2021.
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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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Radziwonik, W., Elert-Dobkowska, E., Klimkowicz-Mrowiec, A., Ziora-Jakutowicz, K., Stepniak, I., Zaremba, J., Sulek, A.
|
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<strong>Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.</strong>
|
|
J. Appl. Genet. 63: 513-525, 2022.
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[PubMed: 35588347]
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[Full Text: https://doi.org/10.1007/s13353-022-00701-3]
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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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Sikic, K., Peters, T. M. A., Marusic, E., Cagalj, I. C., Ramadza, D. P., Zigman, T., Fumic, K., Fernandez, E., Gevaert, K., Debeljak, Z., Wevers, R. A., Baric, I.
|
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<strong>Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiency.</strong>
|
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J. Inherit. Metab. Dis. 45: 1048-1058, 2022.
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[PubMed: 35999711]
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[Full Text: https://doi.org/10.1002/jimd.12549]
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</li>
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</ol>
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Sonja A. Rasmussen - updated : 02/16/2024<br>Hilary J. Vernon - updated : 11/28/2023<br>Patricia A. Hartz - updated : 8/24/2015<br>Cassandra L. Kniffin - updated : 9/4/2012<br>Cassandra L. Kniffin - updated : 2/14/2012<br>Cassandra L. Kniffin - updated : 1/16/2009<br>Carol A. Bocchini - updated : 12/3/2002
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<span class="mim-text-font">
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Rebekah S. Rasooly : 4/1/1999
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alopez : 03/12/2024<br>alopez : 03/12/2024<br>carol : 03/01/2024<br>alopez : 02/16/2024<br>carol : 11/28/2023<br>carol : 11/07/2023<br>carol : 09/27/2016<br>carol : 09/15/2015<br>mgross : 8/24/2015<br>mcolton : 8/24/2015<br>mcolton : 8/17/2015<br>carol : 9/5/2012<br>ckniffin : 9/4/2012<br>carol : 3/2/2012<br>carol : 3/1/2012<br>carol : 2/17/2012<br>ckniffin : 2/14/2012<br>carol : 1/22/2009<br>ckniffin : 1/16/2009<br>carol : 12/3/2002<br>alopez : 5/24/1999<br>alopez : 4/1/1999
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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