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Entry
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- *604322 - SOLUTE CARRIER FAMILY 17 (ACIDIC SUGAR TRANSPORTER), MEMBER 5; SLC17A5
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- OMIM
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<p>
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<span class="h4">*604322</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/604322">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 class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000119899;t=ENST00000355773" 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=26503" 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=604322" 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=ENSG00000119899;t=ENST00000355773" 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_001382629,NM_001382630,NM_001382631,NM_001382632,NM_001382633,NM_001382634,NM_001382635,NM_001382636,NM_012434,XM_047418630,XM_047418631" 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_012434" 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=604322" 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=05058&isoform_id=05058_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/SLC17A5" 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/6562533,6912666,9719374,18088703,22761334,48428688,119569141,119569142,119569143,189055151,194376534,1843419790,1843419802,1843419822,1843419846,1843419854,1843419856,1843419871,1843419888,2217360997,2217360999,2462607852,2462607854" 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/Q9NRA2" 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=26503" 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=ENSG00000119899;t=ENST00000355773" 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=SLC17A5" 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=SLC17A5" 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+26503" 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/SLC17A5" 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:26503" 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/26503" 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=chr6&hgg_gene=ENST00000355773.6&hgg_start=73593379&hgg_end=73653992&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://search.clinicalgenome.org/kb/gene-dosage/HGNC:10933" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:10933" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/slc17a5" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=604322[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=604322[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/SLC17A5/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000119899" 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=SLC17A5" 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=SLC17A5" 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=SLC17A5" 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=SLC17A5&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/PA35824" 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:10933" 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/FBgn0029727.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:1924105" 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/SLC17A5#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:1924105" 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/26503/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=26503" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00008000;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00008000 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00022647;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00022647 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-060929-1158" 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="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:604322" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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:26503" 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=SLC17A5&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> 34566007, 87074006<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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604322
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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 17 (ACIDIC SUGAR TRANSPORTER), MEMBER 5; SLC17A5
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
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SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER 5<br />
|
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SIALIN
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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=SLC17A5" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC17A5</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
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<em>
|
|
Cytogenetic location: <a href="/geneMap/6/648?start=-3&limit=10&highlight=648">6q13</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:73593379-73653992&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'})">6:73,593,379-73,653,992</a> </span>
|
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</em>
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<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=604369,269920" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</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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<p>The SLC17A5 gene encodes a vesicular excitatory amino acid transporter (VEAT) with dual physiologic functions. When present in synaptic vesicles in the central nervous system, sialin is responsible for vesicular storage and subsequent exocytosis of aspartate and glutamate. When present in lysosomes, it acts as an H(+)-coupled sialic acid exporter (<a href="#13" class="mim-tip-reference" title="Miyaji, T., Echigo, N., Hiasa, M., Senoh, S., Omote, H., Moriyama, Y. <strong>Identification of a vesicular aspartate transporter.</strong> Proc. Nat. Acad. Sci. 105: 11720-11724, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18695252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18695252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18695252[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.0804015105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18695252">Miyaji et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18695252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using a positional cloning approach in a search for the gene that is mutant in sialic acid storage diseases (see <a href="/entry/269920">269920</a> and <a href="/entry/604369">604369</a>) that map to chromosome 6q14-q15, <a href="#20" class="mim-tip-reference" title="Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S. <strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong> Nature Genet. 23: 462-465, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581036</a>] [<a href="https://doi.org/10.1038/70585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581036">Verheijen et al. (1999)</a> identified the SLC17A5 gene. The isolated sequence encoded a predicted 495-residue protein with homology to members of the anion/cation symporter (ACS) family of transporters. This family contains eukaryotic inorganic anion transporters (such as Na+/phosphate cotransporters) as well as prokaryotic organic anion transporters (including H+/acid sugar symporters for hexuronate and glucarate). <a href="#20" class="mim-tip-reference" title="Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S. <strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong> Nature Genet. 23: 462-465, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581036</a>] [<a href="https://doi.org/10.1038/70585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581036">Verheijen et al. (1999)</a> suggested that the product of the SLC17A5 gene be designated 'sialin' because of its relation to sialic acid storage diseases. The sialin protein contains a characteristic motif in the fourth transmembrane-spanning domain that is present in all members of the ACS family. They could demonstrate homology of sialin with human Na+/phosphate symporters by sequence alignment. For example, sialin shows 34% sequence identity with NPT1 (SLC17A1; <a href="/entry/182308">182308</a>). Only the N- and C-terminal regions do not show homology. <a href="#20" class="mim-tip-reference" title="Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S. <strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong> Nature Genet. 23: 462-465, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581036</a>] [<a href="https://doi.org/10.1038/70585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581036">Verheijen et al. (1999)</a> found extensive homology of human sialin with proteins in other species. On Northern blot analysis of human tissues, <a href="#20" class="mim-tip-reference" title="Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S. <strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong> Nature Genet. 23: 462-465, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581036</a>] [<a href="https://doi.org/10.1038/70585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581036">Verheijen et al. (1999)</a> found ubiquitous expression of an approximately 4.5-kb major transcript of SLC17A5, and an additional transcript of approximately 3.5 kb. They also observed a ubiquitously expressed 1.8-kb band after very long exposures. They suspected that these different transcripts are due to multiple poly(A) addition sites. The SLC17A5 gene is also known as AST. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10581036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#11" class="mim-tip-reference" title="Mancini, G. M. S., Beerens, C. E. M. T., Aula, P. P., Verheijen, F. W. <strong>Sialic acid storage diseases: a multiple lysosomal transport defect for acidic monosaccharides.</strong> J. Clin. Invest. 87: 1329-1335, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2010546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2010546</a>] [<a href="https://doi.org/10.1172/JCI115136" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2010546">Mancini et al. (1991)</a> demonstrated a proton-driven carrier for sialic acid in human lysosomal membranes. This transporter had similar properties to those previously identified in rat liver. By measuring the uptake kinetics of labeled glucuronic acid, they excluded the existence of more than 1 acidic monosaccharide carrier. Uptake studies with labeled sialic acid and glucuronic acid in lysosomal membrane vesicles from cultured fibroblasts from patients with different clinical forms of sialic acid storage disease showed defective carrier-mediated transport for both sugars. Further evidence that the defective transport of acidic sugars represents the primary genetic defect in sialic acid storage diseases was provided by the observation of reduced, half-normal transport rates in lymphoblast-derived lysosomal membrane vesicles from 5 unrelated obligate heterozygotes. This was the first observation of a human lysosomal transport defect for multiple physiologic compounds. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2010546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Havelaar, A. C., Mancini, G. M. S., Beerens, C. E. M. T., Souren, R. M. A., Verheijen, F. W. <strong>Purification of the lysosomal sialic acid transporter: functional characteristics of a monocarboxylate transporter.</strong> J. Biol. Chem. 273: 34568-34574, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9852127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9852127</a>] [<a href="https://doi.org/10.1074/jbc.273.51.34568" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9852127">Havelaar et al. (1998)</a> studied the lysosomal sialic acid transporter as a first step toward understanding the molecular defect(s) in the clinically heterogeneous forms of sialic acid storage disease. They purified the sialic acid transporter from lysosomal membranes of rat liver to apparent homogeneity and compared its functional properties with those of other monocarboxylate transporters present in the plasma membrane of various mammalian cells. They found striking biochemical and structural similarities of the sialic acid transporter with the known monocarboxylate transporters of the plasma membrane: MCT1 (<a href="/entry/600682">600682</a>), MCT2 (<a href="/entry/603654">603654</a>), and MCT3 (<a href="/entry/610409">610409</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9852127" 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>Studies by <a href="#7" class="mim-tip-reference" title="Havelaar, A. C., Beerens, C. E. M. T., Mancini, G. M. S., Verheijen, F. W. <strong>Transport of organic anions by the lysosomal sialic acid transporter: a functional approach towards the gene for sialic acid storage disease.</strong> FEBS Lett. 446: 65-68, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10100616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10100616</a>] [<a href="https://doi.org/10.1016/s0014-5793(99)00187-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10100616">Havelaar et al. (1999)</a> indicated that the mammalian sialic acid carrier, which is defective in the transport of sialic acid through the lysosomal membrane in sialic acid storage disease, is a carrier for other organic anions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10100616" 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>Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD; <a href="/entry/269920">269920</a>) or a slowly progressive adult form, which is prevalent in Finland and referred to as Salla disease (SD; <a href="/entry/604369">604369</a>), because of its geographic distribution. The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by magnetic resonance imaging. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine. The locus for Salla disease was assigned to a region of approximately 200 kb on 6q14-q15 in a linkage study using Finnish families (<a href="#6" class="mim-tip-reference" title="Haataja, L., Schleutker, J., Laine, A.-P., Renlund, M., Savontaus, M.-L., Dib, C., Weissenbach, J., Peltonen, L., Aula, P. <strong>The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.</strong> Am. J. Hum. Genet. 54: 1042-1049, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198127</a>]" pmid="8198127">Haataja et al., 1994</a>; <a href="#15" class="mim-tip-reference" title="Schleutker, J., Laine, A.-P., Haataja, L., Renlund, M., Weissenbach, J., Aula, P., Peltonen, L. <strong>Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.</strong> Genomics 27: 286-292, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7557994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7557994</a>] [<a href="https://doi.org/10.1006/geno.1995.1044" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7557994">Schleutker et al., 1995</a>). Salla disease and ISSD were further shown to be allelic disorders (<a href="#16" class="mim-tip-reference" title="Schleutker, J., Leppanen, P., Mansson, J.-E., Erikson, A., Weissenbach, J., Peltonen, L., Aula, P. <strong>Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.</strong> Am. J. Hum. Genet. 57: 893-901, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573051</a>]" pmid="7573051">Schleutker et al. (1995)</a>). By a functional and positional candidate gene approach, <a href="#20" class="mim-tip-reference" title="Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S. <strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong> Nature Genet. 23: 462-465, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581036</a>] [<a href="https://doi.org/10.1038/70585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581036">Verheijen et al. (1999)</a> traced mutations responsible for both Salla disease and ISSD to mutations in SLC17A5. They found a homozygous SLC17A5 mutation (arg39 to cys; <a href="#0001">604322.0001</a>) in 5 Finnish families with Salla disease and 6 other SLC17A5 mutations in either homozygous or compound heterozygous state in 6 patients of other ethnic origins. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10581036+7573051+7557994+8198127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Aula, N., Salomaki, P., Timonen, R., Verheijen, F., Mancini, G., Mansson, J.-E., Aula, P., Peltonen, L. <strong>The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 67: 832-840, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10947946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10947946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10947946[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/10.1086/303077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10947946">Aula et al. (2000)</a> identified a large number of mutations in SLC17A5 in patients presenting with either Salla disease or the infantile sialic acid storage disorder. All 80 Finnish patients with Salla disease had the R39C mutation (<a href="#0001">604322.0001</a>); 91% of them were homozygous for this old founder mutation. The compound heterozygous patients, with the founder mutation in only 1 allele, presented with a more severe phenotype than did the homozygous patients. The same R39C mutation was also found in most of the Swedish patients with SD and in heterozygous form in 5 patients from central Europe who presented with an unusually severe (intermediate) SD phenotype. Ten different mutations, including deletions, insertions, and missense and nonsense mutations, were identified in patients with the most severe ISSD phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10947946" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Kleta, R., Aughton, D. J., Rivkin, M. J., Huizing, M., Strovel, E., Anikster, Y., Orvisky, E., Natowicz, M., Krasnewich, D., Gahl, W. A. <strong>Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.</strong> Am. J. Med. Genet. 120A: 28-33, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12794688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12794688</a>] [<a href="https://doi.org/10.1002/ajmg.a.20024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12794688">Kleta et al. (2003)</a> presented 2 patients with clinical, biochemical, and molecular data indicative of lysosomal free sialic acid storage disorders. One patient, with a severe clinical course typical of ISSD, had 86-fold elevated levels of fibroblast free sialic acid, with 62% in the lysosomal fraction. His SLC17A5 mutations included a 148-bp deletion of exon 9 (<a href="#0003">604322.0003</a>) and a 15-bp deletion in exon 6 (<a href="#0007">604322.0007</a>). Another patient, with 'intermediate severe' Salla disease, had 9-fold elevated levels of free sialic acid in cultured fibroblasts, of which 87% resided in the lysosomal fraction. She was compound heterozygous for the SLC17A5 mutation commonly found in Finnish Salla disease patients, R39C (<a href="#0001">604322.0001</a>), and a 15-bp deletion found in ISSD patients (<a href="#0007">604322.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12794688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Biancheri, R., Rossi, A., Verbeek, H. A., Schot, R., Corsolini, F., Assereto, S., Mancini, G. M. S., Verheijen, F. W., Minetti, C., Filocamo, M. <strong>Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.</strong> Neurogenetics 6: 195-199, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16170568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16170568</a>] [<a href="https://doi.org/10.1007/s10048-005-0011-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16170568">Biancheri et al. (2005)</a> identified homozygosity for the K136E (<a href="#0009">604322.0009</a>) mutation in an Italian patient with a severe form of Salla disease. The patient demonstrated psychomotor delay and nystagmus within the first months of life. He later showed severe hypomyelination on brain MRI and peripheral nerve involvement. Functional expression studies showed that the R39C and K136E mutant proteins retained some residual transport activity (<a href="#14" class="mim-tip-reference" title="Morin, P., Sagne, C., Gasnier, B. <strong>Functional characterization of wild-type and mutant human sialin.</strong> EMBO J. 23: 4560-4570, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15510212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15510212</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15510212[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/sj.emboj.7600464" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15510212">Morin et al., 2004</a> and <a href="#21" class="mim-tip-reference" title="Wreden, C. C., Wlizla, M., Reimer, R. J. <strong>Varied mechanisms underlie the free sialic acid storage disorders.</strong> J. Biol. Chem. 280: 1408-1416, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15516337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15516337</a>] [<a href="https://doi.org/10.1074/jbc.M411295200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15516337">Wreden et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16170568+15510212+15516337" 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="#18" class="mim-tip-reference" title="Strauss, K. A., Puffenberger, E. G., Craig, D. W., Panganiban, C. B., Lee, A. M., Hu-Lince, D., Stephan, D. A., Morton, D. H. <strong>Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.</strong> Am. J. Med. Genet. 138A: 262-267, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16158439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16158439</a>] [<a href="https://doi.org/10.1002/ajmg.a.30961" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16158439">Strauss et al. (2005)</a> evaluated an Old Order Mennonite child for gross motor delay, truncal ataxia, and slow linear growth. Recognition of a similarly affected second cousin prompted a genomewide homozygosity mapping study using high-density SNP arrays. SNP genotypes from 2 affected individuals and their parents were used to localize the disorder to a 14.9-Mb region on chromosome 6. This region contained 55 genes, including SLC17A5. Direct sequencing of SLC17A5 in the proband demonstrated homozygosity for the R39C sequence variant (<a href="#0001">604322.0001</a>), which is the common cause of Salla disease in Finland. Three additional Mennonite individuals, ages 8 months to 50 years, were subsequently identified by direct molecular genetic testing. <a href="#18" class="mim-tip-reference" title="Strauss, K. A., Puffenberger, E. G., Craig, D. W., Panganiban, C. B., Lee, A. M., Hu-Lince, D., Stephan, D. A., Morton, D. H. <strong>Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.</strong> Am. J. Med. Genet. 138A: 262-267, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16158439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16158439</a>] [<a href="https://doi.org/10.1002/ajmg.a.30961" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16158439">Strauss et al. (2005)</a> emphasized that this small-scale mapping study was rapid, inexpensive, and analytically simple. Previous diagnostic evaluation, which included subspecialty consultations, neuroimaging, and metabolic testing, was long, costly, and did not yield a diagnosis. In families with shared genetic heritage, genomewide SNP arrays with relatively high marker density allow disease gene mapping studies to be incorporated into routine diagnostic evaluations. The oldest affected Mennonite patient was bedridden, spastic, and dystonic at age 51 years. Cognitive and motor functions had been relatively stable until the end of her fifth decade, after which she deteriorated rapidly over a period of 2 to 3 years. An affected younger sister died at age 46 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16158439" 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="mim-changed mim-change"><p>In a patient with Salla disease, <a href="#17" class="mim-tip-reference" title="Shinawi, M., Wegner, D. J., Paul, A. J., Buchser, W., Schmidt, R., Sharma, J., Sardiello, M., Sisco, K., Manwaring, L., Reynolds, M., Fulton, R., Fronick, C., Shaver, A., Huang, T. Y., Carroll, A., Roessler, K., Halpern, A. L., Undiagnosed Diseases Network, Dickson, P. I., Wambach, J. A. <strong>Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.</strong> Molec. Genet. Metab. 144: 109004, 2025.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39742826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39742826</a>] [<a href="https://doi.org/10.1016/j.ymgme.2024.109004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="39742826">Shinawi et al. (2025)</a> identified compound heterozygous mutations in the SLC17A5 gene: a maternally inherited 1-bp deletion (c.533delC; <a href="#0002">604322.0002</a>) and a paternally inherited mosaic 184-bp deletion (<a href="#0010">604322.0010</a>) encompassing the 3-prime end of exon 3, predicted to result in skipping of exon 3. The 184-bp deletion was not detected in the patient's blood by whole-exome or whole-genome sequencing, but was identified in RNAseq in the patient's fibroblasts. Long-read sequencing showed that the 184-bp deletion was present in 25% of paternally inherited alleles in fibroblasts and in 42% of paternally inherited alleles in muscle, but was not present in blood or buccal cells. Coexpression of wildtype SLC17A5 and SLC17A5 with skipping of exon 3 in HEK293 cells resulted in decreased expression of both SLC17A5 constructs, suggesting a dominant-negative effect of the exon 3-skipped constructs. Although both SLC17A5 mutations identified in this patient were predicted to cause a severe sialic storage disorder presentation, <a href="#17" class="mim-tip-reference" title="Shinawi, M., Wegner, D. J., Paul, A. J., Buchser, W., Schmidt, R., Sharma, J., Sardiello, M., Sisco, K., Manwaring, L., Reynolds, M., Fulton, R., Fronick, C., Shaver, A., Huang, T. Y., Carroll, A., Roessler, K., Halpern, A. L., Undiagnosed Diseases Network, Dickson, P. I., Wambach, J. A. <strong>Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.</strong> Molec. Genet. Metab. 144: 109004, 2025.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39742826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39742826</a>] [<a href="https://doi.org/10.1016/j.ymgme.2024.109004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="39742826">Shinawi et al. (2025)</a> hypothesized that the mosaicism of the 184-bp deletion led to a milder Salla disease presentation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=39742826" 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></div>
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<p><a href="#13" class="mim-tip-reference" title="Miyaji, T., Echigo, N., Hiasa, M., Senoh, S., Omote, H., Moriyama, Y. <strong>Identification of a vesicular aspartate transporter.</strong> Proc. Nat. Acad. Sci. 105: 11720-11724, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18695252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18695252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18695252[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.0804015105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18695252">Miyaji et al. (2008)</a> presented evidence that the SLC17A5 gene acts as a vesicular aspartate transporter in the brain. Sialin was found to be present in rat hippocampal synaptic vesicles and synaptic-like microvesicles in the pineal gland. RNA interference of sialin expression decreased exocytosis of aspartate and glutamate in pinealocytes. In addition, proteoliposomes containing purified sialin actively accumulated aspartate and glutamate, consistent with a transporter function. The mouse sialin mutant R39C (<a href="#0001">604322.0001</a>), which is found in patients with Salla disease (<a href="/entry/604369">604369</a>), was completely inactive in the energy-dependent uptake of aspartate and glutamic acid, but retained 34% of wildtype sialic acid/H+ cotransport activity. In contrast, mouse sialin mutant H183R (<a href="#0004">604322.0004</a>), which is found in the severe infantile form of the human disorder ISSD (<a href="/entry/269920">269920</a>), showed active energy-dependent transport, but inactive H+/sialic acid cotransport. <a href="#13" class="mim-tip-reference" title="Miyaji, T., Echigo, N., Hiasa, M., Senoh, S., Omote, H., Moriyama, Y. <strong>Identification of a vesicular aspartate transporter.</strong> Proc. Nat. Acad. Sci. 105: 11720-11724, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18695252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18695252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18695252[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.0804015105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18695252">Miyaji et al. (2008)</a> suggested that impaired aspartergic and glutamatergic neurotransmission could explain the severe CNS manifestations in patients with Salla disease who survive to adulthood. The results strongly suggested that sialin possesses dual physiologic functions as a vesicular transporter involved in neurotransmission and as a lysosomal transporter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18695252" 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> rs80338794 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338794;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/rs80338794?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=rs80338794" 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=rs80338794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 5 Finnish patients with classic Salla disease (SD; <a href="/entry/604369">604369</a>), <a href="#20" class="mim-tip-reference" title="Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S. <strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong> Nature Genet. 23: 462-465, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581036</a>] [<a href="https://doi.org/10.1038/70585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581036">Verheijen et al. (1999)</a> found an arg39-to-cys (R39C) missense mutation caused by a homozygous C-to-T transition at nucleotide 115 of the SLC17A5 gene. <a href="#1" class="mim-tip-reference" title="Aula, N., Salomaki, P., Timonen, R., Verheijen, F., Mancini, G., Mansson, J.-E., Aula, P., Peltonen, L. <strong>The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 67: 832-840, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10947946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10947946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10947946[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/10.1086/303077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10947946">Aula et al. (2000)</a> found that the homozygous R39C mutation was associated with a milder phenotype (Salla disease). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10947946+10581036" 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 monozygotic twin girls living in North America and apparently without Finnish ancestry, <a href="#12" class="mim-tip-reference" title="Martin, R. A., Slaugh, R., Natowicz, M., Pearlman, K., Orvisky, E., Krasnewich, D., Kleta, R., Huizing, M., Gahl, W. A. <strong>Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.</strong> Am. J. Med. Genet. 120A: 23-27, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12794687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12794687</a>] [<a href="https://doi.org/10.1002/ajmg.a.10246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12794687">Martin et al. (2003)</a> described Salla disease caused by the arg39-to-cys mutation. Their clinical histories were typical of the insidious onset and protracted course of Salla disease as described in Finnish patients with the R39C mutation. Their neonatal period was normal and hypotonia with mild delays and gross motor abilities became obvious only at the age of approximately 1 year. The hypotonia progressed to spasticity, as is often the case in Salla disease. Ocular nystagmus, often described as a common childhood feature of Salla disease, was absent in the twins. However, both girls demonstrated truncal ataxia, another prominent feature of Salla disease. Initial language delay and later language loss provided evidence of the progressive nature of the disorder. Neurologic progression often becomes evident as intelligence declines into adulthood to a point at which the IQ rarely exceeds 20. Although the facies of the twins appeared somewhat coarse, facial coarseness is not typically described in Salla disease until adulthood. Generalized skeletal abnormalities such as dysostosis multiplex, typical of many other lysosomal storage diseases including infantile free sialic acid storage disease, are not seen in Salla disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12794687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Kleta, R., Aughton, D. J., Rivkin, M. J., Huizing, M., Strovel, E., Anikster, Y., Orvisky, E., Natowicz, M., Krasnewich, D., Gahl, W. A. <strong>Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.</strong> Am. J. Med. Genet. 120A: 28-33, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12794688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12794688</a>] [<a href="https://doi.org/10.1002/ajmg.a.20024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12794688">Kleta et al. (2003)</a> found the R39C mutation typical of Salla disease in compound heterozygous state with the 15-bp deletion (<a href="#0007">604322.0007</a>) typical of ISSD, in a North American patient with 'intermediate severe' Salla disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12794688" 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>Functional expression studies showed that the R39C mutant protein retained some residual transport activity (<a href="#14" class="mim-tip-reference" title="Morin, P., Sagne, C., Gasnier, B. <strong>Functional characterization of wild-type and mutant human sialin.</strong> EMBO J. 23: 4560-4570, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15510212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15510212</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15510212[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/sj.emboj.7600464" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15510212">Morin et al., 2004</a> and <a href="#21" class="mim-tip-reference" title="Wreden, C. C., Wlizla, M., Reimer, R. J. <strong>Varied mechanisms underlie the free sialic acid storage disorders.</strong> J. Biol. Chem. 280: 1408-1416, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15516337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15516337</a>] [<a href="https://doi.org/10.1074/jbc.M411295200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15516337">Wreden et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15510212+15516337" 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> rs727504156 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727504156;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/rs727504156?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=rs727504156" 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=rs727504156" 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=RCV000005968 OR RCV000153956 OR RCV000588857 OR RCV005042299" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005968, RCV000153956, RCV000588857, RCV005042299" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005968...</a>
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<p>In a French patient with infantile sialic acid storage disease (ISSD; <a href="/entry/269920">269920</a>), <a href="#20" class="mim-tip-reference" title="Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S. <strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong> Nature Genet. 23: 462-465, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581036</a>] [<a href="https://doi.org/10.1038/70585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581036">Verheijen et al. (1999)</a> found compound heterozygosity for 2 frameshift mutations in the SLC17A5 gene: 533delC, deleting 1 bp from codon 178 and producing a frameshift resulting in 33 new amino acids, then premature termination; and a 148-bp deletion (1112-1259; <a href="#0003">604322.0003</a>) producing a frameshift resulting in 27 new amino acids, then premature termination. This French patient, designated DR, was reported earlier by <a href="#11" class="mim-tip-reference" title="Mancini, G. M. S., Beerens, C. E. M. T., Aula, P. P., Verheijen, F. W. <strong>Sialic acid storage diseases: a multiple lysosomal transport defect for acidic monosaccharides.</strong> J. Clin. Invest. 87: 1329-1335, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2010546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2010546</a>] [<a href="https://doi.org/10.1172/JCI115136" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2010546">Mancini et al. (1991)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2010546+10581036" 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>Salla Disease</em></strong>
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<div class="mim-changed mim-change"><p>In a patient with Salla disease (SD; <a href="/entry/604369">604369</a>), <a href="#17" class="mim-tip-reference" title="Shinawi, M., Wegner, D. J., Paul, A. J., Buchser, W., Schmidt, R., Sharma, J., Sardiello, M., Sisco, K., Manwaring, L., Reynolds, M., Fulton, R., Fronick, C., Shaver, A., Huang, T. Y., Carroll, A., Roessler, K., Halpern, A. L., Undiagnosed Diseases Network, Dickson, P. I., Wambach, J. A. <strong>Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.</strong> Molec. Genet. Metab. 144: 109004, 2025.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39742826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39742826</a>] [<a href="https://doi.org/10.1016/j.ymgme.2024.109004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="39742826">Shinawi et al. (2025)</a> identified compound heterozygous mutations in the SLC17A5 gene: a maternally inherited c.533delC mutation (c.533delC, NM_012434.5) in exon 4, resulting in a frameshift and premature termination (Thr178AsnfsTer34), and a paternally inherited mosaic 184-bp deletion (<a href="#0010">604322.0010</a>) encompassing the 3-prime end of exon 3, predicted to result in skipping of exon 3. The mutations were identified by whole-exome sequencing and whole-genome sequencing in patient blood, RNAseq, and targeted capture with massively parallel sequencing in patient fibroblasts. Long-read sequencing showed that the 184-bp deletion was present in 25% of paternally inherited alleles in fibroblasts and in 42% of paternally inherited alleles in muscle, and was not present in blood or buccal cells. The 533delC mutation was present in the gnomAD database at an allele frequency of 93/1178886. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=39742826" 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></div>
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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> rs146095590 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs146095590;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/rs146095590?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=rs146095590" 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=rs146095590" 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=RCV000005969 OR RCV000409414 OR RCV003137984" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005969, RCV000409414, RCV003137984" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005969...</a>
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<p>For discussion of the 148-bp deletion in the SLC17A5 gene (1112-1259) that was found in compound heterozygous state in a patient with infantile sialic acid storage disease (ISSD; <a href="/entry/269920">269920</a>) by <a href="#20" class="mim-tip-reference" title="Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S. <strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong> Nature Genet. 23: 462-465, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581036</a>] [<a href="https://doi.org/10.1038/70585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581036">Verheijen et al. (1999)</a>, see <a href="#0002">604322.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10581036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Kleta, R., Aughton, D. J., Rivkin, M. J., Huizing, M., Strovel, E., Anikster, Y., Orvisky, E., Natowicz, M., Krasnewich, D., Gahl, W. A. <strong>Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.</strong> Am. J. Med. Genet. 120A: 28-33, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12794688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12794688</a>] [<a href="https://doi.org/10.1002/ajmg.a.20024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12794688">Kleta et al. (2003)</a> determined that the 148-bp deletion of exon 9, due to a G-to-A splice site mutation in position 1 of intron 9, was found in compound heterozygous state with a 15-bp deletion (del801-815) in exon 6 (<a href="#0007">604322.0007</a>) in a North American patient with a severe clinical course typical of ISSD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12794688" 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> rs119491109 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119491109;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/rs119491109?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=rs119491109" 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=rs119491109" 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=RCV000005970 OR RCV004566684" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005970, RCV004566684" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005970...</a>
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<p>In a Yugoslavian patient with infantile sialic acid storage disease (ISSD; <a href="/entry/269920">269920</a>), <a href="#20" class="mim-tip-reference" title="Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S. <strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong> Nature Genet. 23: 462-465, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581036</a>] [<a href="https://doi.org/10.1038/70585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581036">Verheijen et al. (1999)</a> found compound heterozygosity for 2 missense mutations: his183 to arg (H183R) and pro334 to arg (P334R; <a href="#0005">604322.0005</a>), occurring in transmembrane domains 4 and 8, respectively. This patient had previously been reported by <a href="#19" class="mim-tip-reference" title="Tondeur, M., Libert, J., Vamos, E., Van Hoof, F., Thomas, G. H., Strecker, G. <strong>Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings.</strong> Europ. J. Pediat. 139: 142-147, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7151835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7151835</a>] [<a href="https://doi.org/10.1007/BF00441499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7151835">Tondeur et al. (1982)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7151835+10581036" 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">rs119491110 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs119491110;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=rs119491110" 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=rs119491110" 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=RCV000005971 OR RCV002496276 OR RCV002512816" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005971, RCV002496276, RCV002512816" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005971...</a>
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<p>For discussion of the pro334-to-arg (P334R) mutation in the SLC17A5 gene that was found in compound heterozygous state in a patient with infantile sialic acid storage disease (ISSD; <a href="/entry/269920">269920</a>) by <a href="#20" class="mim-tip-reference" title="Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S. <strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong> Nature Genet. 23: 462-465, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581036</a>] [<a href="https://doi.org/10.1038/70585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581036">Verheijen et al. (1999)</a>, see <a href="#0004">604322.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10581036" 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=RCV000005972" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005972" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005972</a>
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<p>In an Italian patient with infantile sialic acid storage disease (ISSD; <a href="/entry/269920">269920</a>), <a href="#20" class="mim-tip-reference" title="Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S. <strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong> Nature Genet. 23: 462-465, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581036</a>] [<a href="https://doi.org/10.1038/70585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581036">Verheijen et al. (1999)</a> found homozygosity for a 500-bp insertion after nucleotide 978 or 979. This patient had been reported by <a href="#2" class="mim-tip-reference" title="Berra, B., Gornati, R., Rapelli, S., Gatti, R., Mancini, G. M. S., Ciana, G., Bembi, B. <strong>Infantile sialic acid storage disease: biochemical studies.</strong> Am. J. Med. Genet. 58: 24-31, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573152</a>] [<a href="https://doi.org/10.1002/ajmg.1320580107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7573152">Berra et al. (1995)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7573152+10581036" 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=RCV000005973 OR RCV000049971 OR RCV000485185 OR RCV005031539" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005973, RCV000049971, RCV000485185, RCV005031539" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005973...</a>
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<p>In 2 French Canadian patients with infantile sialic acid storage disease (ISSD; <a href="/entry/269920">269920</a>) reported by <a href="#10" class="mim-tip-reference" title="Lemyre, E., Russo, P., Melancon, S. B., Gagne, R., Potier, M., Lambert, M. <strong>Clinical spectrum of infantile free sialic acid storage disease.</strong> Am. J. Med. Genet. 82: 385-391, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10069709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10069709</a>]" pmid="10069709">Lemyre et al. (1999)</a> and in 1 English patient reported by <a href="#5" class="mim-tip-reference" title="Cameron, P. D., Dubowitz, V., Besley, G. T. N., Fensom, A. H. <strong>Sialic acid storage disease.</strong> Arch. Dis. Child. 65: 314-315, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2334213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2334213</a>] [<a href="https://doi.org/10.1136/adc.65.3.314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2334213">Cameron et al. (1990)</a>, <a href="#20" class="mim-tip-reference" title="Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S. <strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong> Nature Genet. 23: 462-465, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581036</a>] [<a href="https://doi.org/10.1038/70585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581036">Verheijen et al. (1999)</a> found a 15-bp deletion (nucleotides 802-816) resulting in the deletion of amino acids serine, serine, leucine, arginine, and asparagine in the cytosolic loop between transmembrane domains 6 and 7 of the SLC17A5 gene product. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2334213+10581036+10069709" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Biancheri, R., Verbeek, E., Rossi, A., Gaggero, R., Roccatagliata, L., Gatti, R., van Diggelen, O., Verheijen, F. W., Mancini, G. M. S. <strong>An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.</strong> Clin. Genet. 61: 443-447, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12121352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12121352</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.610608.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12121352">Biancheri et al. (2002)</a> described 2 Italian brothers with sialic acid storage disease that resembled Salla disease as observed in the Finnish population (SD; <a href="/entry/604369">604369</a>) rather than ISSD. Both brothers showed moderate intellectual disability, spastic ataxic syndrome, hypomyelination and cerebellar ataxia on MRI, and lysosomal storage, all typical of Salla disease. In one of the alleles of the younger brother, <a href="#4" class="mim-tip-reference" title="Biancheri, R., Verbeek, E., Rossi, A., Gaggero, R., Roccatagliata, L., Gatti, R., van Diggelen, O., Verheijen, F. W., Mancini, G. M. S. <strong>An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.</strong> Clin. Genet. 61: 443-447, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12121352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12121352</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.610608.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12121352">Biancheri et al. (2002)</a> found the same 15-bp deletion in exon 6 that had been found by <a href="#20" class="mim-tip-reference" title="Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S. <strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong> Nature Genet. 23: 462-465, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581036</a>] [<a href="https://doi.org/10.1038/70585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581036">Verheijen et al. (1999)</a>. No R39C mutation (<a href="#0001">604322.0001</a>) was found. The older brother had died at the age of 20 years and DNA testing was not performed. The second mutation in the younger brother was presumed to lie in a noncoding area of the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10581036+12121352" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Kleta, R., Aughton, D. J., Rivkin, M. J., Huizing, M., Strovel, E., Anikster, Y., Orvisky, E., Natowicz, M., Krasnewich, D., Gahl, W. A. <strong>Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.</strong> Am. J. Med. Genet. 120A: 28-33, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12794688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12794688</a>] [<a href="https://doi.org/10.1002/ajmg.a.20024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12794688">Kleta et al. (2003)</a> detected this mutation in compound heterozygous state with an R39C substitution (<a href="#0001">604322.0001</a>) in a North American patient with Salla disease. <a href="#9" class="mim-tip-reference" title="Kleta, R., Aughton, D. J., Rivkin, M. J., Huizing, M., Strovel, E., Anikster, Y., Orvisky, E., Natowicz, M., Krasnewich, D., Gahl, W. A. <strong>Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.</strong> Am. J. Med. Genet. 120A: 28-33, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12794688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12794688</a>] [<a href="https://doi.org/10.1002/ajmg.a.20024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12794688">Kleta et al. (2003)</a> described this mutation as 801 815del15 and stated that they believed the mutation detected by them was the same as that described by <a href="#20" class="mim-tip-reference" title="Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S. <strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong> Nature Genet. 23: 462-465, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581036</a>] [<a href="https://doi.org/10.1038/70585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581036">Verheijen et al. (1999)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12794688+10581036" 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> rs80338795 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338795;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/rs80338795?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=rs80338795" 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=rs80338795" 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=RCV000020682 OR RCV000412731 OR RCV000763562 OR RCV001095364" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020682, RCV000412731, RCV000763562, RCV001095364" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020682...</a>
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<p>In a patient with Salla disease (SD; <a href="/entry/604369">604369</a>), <a href="#1" class="mim-tip-reference" title="Aula, N., Salomaki, P., Timonen, R., Verheijen, F., Mancini, G., Mansson, J.-E., Aula, P., Peltonen, L. <strong>The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 67: 832-840, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10947946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10947946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10947946[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/10.1086/303077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10947946">Aula et al. (2000)</a> identified compound heterozygosity for 2 mutations in the SLC17A5 gene: the common R39C (<a href="#0001">604322.0001</a>) mutation and a 406A-G transition in exon 3, resulting in a lys136-to-glu (K136E) substitution in the cytosolic loop just before the third transmembrane domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10947946" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Biancheri, R., Rossi, A., Verbeek, H. A., Schot, R., Corsolini, F., Assereto, S., Mancini, G. M. S., Verheijen, F. W., Minetti, C., Filocamo, M. <strong>Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.</strong> Neurogenetics 6: 195-199, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16170568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16170568</a>] [<a href="https://doi.org/10.1007/s10048-005-0011-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16170568">Biancheri et al. (2005)</a> found homozygosity for the K136E mutation in an Italian patient with a severe form of Salla disease. The patient demonstrated psychomotor delay and nystagmus within the first months of life. He later showed severe hypomyelination on brain MRI and peripheral nerve involvement. Functional expression studies showed that the K136E mutant protein retained some residual transport activity (<a href="#14" class="mim-tip-reference" title="Morin, P., Sagne, C., Gasnier, B. <strong>Functional characterization of wild-type and mutant human sialin.</strong> EMBO J. 23: 4560-4570, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15510212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15510212</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15510212[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/sj.emboj.7600464" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15510212">Morin et al., 2004</a> and <a href="#21" class="mim-tip-reference" title="Wreden, C. C., Wlizla, M., Reimer, R. J. <strong>Varied mechanisms underlie the free sialic acid storage disorders.</strong> J. Biol. Chem. 280: 1408-1416, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15516337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15516337</a>] [<a href="https://doi.org/10.1074/jbc.M411295200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15516337">Wreden et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16170568+15510212+15516337" 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><div class="mim-changed mim-change">.0010 SALLA DISEASE, MOSAIC</div></strong>
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<div class="mim-changed mim-change">SLC17A5, 184-BP DEL</div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV005055416" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV005055416" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV005055416</a>
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<div class="mim-changed mim-change"><p>For discussion of the mosaic 184-bp deletion (chr6.73,641,566-73,641,749, GRCh38) encompassing the 3-prime end of exon 3 in the SLC17A5 gene, predicted to result in skipping of exon 3, that was identified in compound heterozygous state in a patient with Salla disease (SD; <a href="/entry/604369">604369</a>) by <a href="#17" class="mim-tip-reference" title="Shinawi, M., Wegner, D. J., Paul, A. J., Buchser, W., Schmidt, R., Sharma, J., Sardiello, M., Sisco, K., Manwaring, L., Reynolds, M., Fulton, R., Fronick, C., Shaver, A., Huang, T. Y., Carroll, A., Roessler, K., Halpern, A. L., Undiagnosed Diseases Network, Dickson, P. I., Wambach, J. A. <strong>Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.</strong> Molec. Genet. Metab. 144: 109004, 2025.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39742826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39742826</a>] [<a href="https://doi.org/10.1016/j.ymgme.2024.109004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="39742826">Shinawi et al. (2025)</a>, see <a href="#0002">604322.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=39742826" 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></div>
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<strong>REFERENCES</strong>
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<a id="Aula2000" class="mim-anchor"></a>
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Aula, N., Salomaki, P., Timonen, R., Verheijen, F., Mancini, G., Mansson, J.-E., Aula, P., Peltonen, L.
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<strong>The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.</strong>
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Am. J. Hum. Genet. 67: 832-840, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10947946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10947946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10947946[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=10947946" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/303077" target="_blank">Full Text</a>]
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Berra, B., Gornati, R., Rapelli, S., Gatti, R., Mancini, G. M. S., Ciana, G., Bembi, B.
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<strong>Infantile sialic acid storage disease: biochemical studies.</strong>
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Am. J. Med. Genet. 58: 24-31, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573152</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7573152" 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/ajmg.1320580107" target="_blank">Full Text</a>]
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Biancheri, R., Rossi, A., Verbeek, H. A., Schot, R., Corsolini, F., Assereto, S., Mancini, G. M. S., Verheijen, F. W., Minetti, C., Filocamo, M.
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<strong>Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.</strong>
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Neurogenetics 6: 195-199, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16170568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16170568</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16170568" 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/s10048-005-0011-3" target="_blank">Full Text</a>]
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Biancheri, R., Verbeek, E., Rossi, A., Gaggero, R., Roccatagliata, L., Gatti, R., van Diggelen, O., Verheijen, F. W., Mancini, G. M. S.
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<strong>An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.</strong>
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Clin. Genet. 61: 443-447, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12121352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12121352</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12121352" 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/10.1034/j.1399-0004.2002.610608.x" target="_blank">Full Text</a>]
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Cameron, P. D., Dubowitz, V., Besley, G. T. N., Fensom, A. H.
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<strong>Sialic acid storage disease.</strong>
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Arch. Dis. Child. 65: 314-315, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2334213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2334213</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2334213" 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/10.1136/adc.65.3.314" target="_blank">Full Text</a>]
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Haataja, L., Schleutker, J., Laine, A.-P., Renlund, M., Savontaus, M.-L., Dib, C., Weissenbach, J., Peltonen, L., Aula, P.
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<strong>The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.</strong>
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Am. J. Hum. Genet. 54: 1042-1049, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8198127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8198127</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8198127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Havelaar, A. C., Beerens, C. E. M. T., Mancini, G. M. S., Verheijen, F. W.
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<strong>Transport of organic anions by the lysosomal sialic acid transporter: a functional approach towards the gene for sialic acid storage disease.</strong>
|
|
FEBS Lett. 446: 65-68, 1999.
|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10100616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10100616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10100616" 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/s0014-5793(99)00187-8" target="_blank">Full Text</a>]
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Havelaar, A. C., Mancini, G. M. S., Beerens, C. E. M. T., Souren, R. M. A., Verheijen, F. W.
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<strong>Purification of the lysosomal sialic acid transporter: functional characteristics of a monocarboxylate transporter.</strong>
|
|
J. Biol. Chem. 273: 34568-34574, 1998.
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|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9852127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9852127</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9852127" 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/10.1074/jbc.273.51.34568" target="_blank">Full Text</a>]
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Kleta, R., Aughton, D. J., Rivkin, M. J., Huizing, M., Strovel, E., Anikster, Y., Orvisky, E., Natowicz, M., Krasnewich, D., Gahl, W. A.
|
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<strong>Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.</strong>
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Am. J. Med. Genet. 120A: 28-33, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12794688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12794688</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12794688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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|
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[<a href="https://doi.org/10.1002/ajmg.a.20024" target="_blank">Full Text</a>]
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|
|
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|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Lemyre1999" class="mim-anchor"></a>
|
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|
|
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|
|
Lemyre, E., Russo, P., Melancon, S. B., Gagne, R., Potier, M., Lambert, M.
|
|
<strong>Clinical spectrum of infantile free sialic acid storage disease.</strong>
|
|
Am. J. Med. Genet. 82: 385-391, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10069709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10069709</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10069709" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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|
|
|
|
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|
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<a id="11" class="mim-anchor"></a>
|
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<a id="Mancini1991" class="mim-anchor"></a>
|
|
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|
|
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|
|
Mancini, G. M. S., Beerens, C. E. M. T., Aula, P. P., Verheijen, F. W.
|
|
<strong>Sialic acid storage diseases: a multiple lysosomal transport defect for acidic monosaccharides.</strong>
|
|
J. Clin. Invest. 87: 1329-1335, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2010546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2010546</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2010546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI115136" target="_blank">Full Text</a>]
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|
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|
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|
|
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|
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<a id="Martin2003" class="mim-anchor"></a>
|
|
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|
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|
|
Martin, R. A., Slaugh, R., Natowicz, M., Pearlman, K., Orvisky, E., Krasnewich, D., Kleta, R., Huizing, M., Gahl, W. A.
|
|
<strong>Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.</strong>
|
|
Am. J. Med. Genet. 120A: 23-27, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12794687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12794687</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12794687" 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/ajmg.a.10246" target="_blank">Full Text</a>]
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|
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|
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|
|
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|
|
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|
|
Miyaji, T., Echigo, N., Hiasa, M., Senoh, S., Omote, H., Moriyama, Y.
|
|
<strong>Identification of a vesicular aspartate transporter.</strong>
|
|
Proc. Nat. Acad. Sci. 105: 11720-11724, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18695252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18695252</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18695252[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=18695252" 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.0804015105" target="_blank">Full Text</a>]
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|
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|
|
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|
|
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|
|
Morin, P., Sagne, C., Gasnier, B.
|
|
<strong>Functional characterization of wild-type and mutant human sialin.</strong>
|
|
EMBO J. 23: 4560-4570, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15510212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15510212</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15510212[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=15510212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.emboj.7600464" target="_blank">Full Text</a>]
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|
|
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|
|
Schleutker, J., Laine, A.-P., Haataja, L., Renlund, M., Weissenbach, J., Aula, P., Peltonen, L.
|
|
<strong>Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.</strong>
|
|
Genomics 27: 286-292, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7557994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7557994</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7557994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1995.1044" target="_blank">Full Text</a>]
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|
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Schleutker, J., Leppanen, P., Mansson, J.-E., Erikson, A., Weissenbach, J., Peltonen, L., Aula, P.
|
|
<strong>Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.</strong>
|
|
Am. J. Hum. Genet. 57: 893-901, 1995.
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|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573051</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7573051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Shinawi2025" class="mim-anchor"></a>
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|
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Shinawi, M., Wegner, D. J., Paul, A. J., Buchser, W., Schmidt, R., Sharma, J., Sardiello, M., Sisco, K., Manwaring, L., Reynolds, M., Fulton, R., Fronick, C., Shaver, A., Huang, T. Y., Carroll, A., Roessler, K., Halpern, A. L., Undiagnosed Diseases Network, Dickson, P. I., Wambach, J. A.
|
|
<strong>Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.</strong>
|
|
Molec. Genet. Metab. 144: 109004, 2025.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39742826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39742826</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=39742826" 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.ymgme.2024.109004" target="_blank">Full Text</a>]
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|
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Strauss, K. A., Puffenberger, E. G., Craig, D. W., Panganiban, C. B., Lee, A. M., Hu-Lince, D., Stephan, D. A., Morton, D. H.
|
|
<strong>Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.</strong>
|
|
Am. J. Med. Genet. 138A: 262-267, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16158439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16158439</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16158439" 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/ajmg.a.30961" target="_blank">Full Text</a>]
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Tondeur, M., Libert, J., Vamos, E., Van Hoof, F., Thomas, G. H., Strecker, G.
|
|
<strong>Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings.</strong>
|
|
Europ. J. Pediat. 139: 142-147, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7151835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7151835</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7151835" 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/BF00441499" target="_blank">Full Text</a>]
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Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S.
|
|
<strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong>
|
|
Nature Genet. 23: 462-465, 1999.
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581036</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10581036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/70585" target="_blank">Full Text</a>]
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Wreden, C. C., Wlizla, M., Reimer, R. J.
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<strong>Varied mechanisms underlie the free sialic acid storage disorders.</strong>
|
|
J. Biol. Chem. 280: 1408-1416, 2005.
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|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15516337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15516337</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15516337" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hilary J. Vernon - updated : 02/07/2025
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Cassandra L. Kniffin - updated : 4/13/2009<br>Victor A. McKusick - updated : 12/1/2006<br>Cassandra L. Kniffin - updated : 3/2/2006<br>Victor A. McKusick - updated : 6/23/2003<br>Victor A. McKusick - updated : 9/9/2002<br>Victor A. McKusick - updated : 10/20/2000<br>Victor A. McKusick - updated : 12/15/1999
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Victor A. McKusick : 11/30/1999
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carol : 02/07/2025<br>carol : 02/07/2025<br>alopez : 07/22/2015<br>mcolton : 6/26/2015<br>carol : 10/27/2014<br>carol : 9/27/2013<br>carol : 7/22/2010<br>carol : 3/9/2010<br>wwang : 4/29/2009<br>ckniffin : 4/13/2009<br>alopez : 12/12/2006<br>terry : 12/1/2006<br>wwang : 3/31/2006<br>wwang : 3/14/2006<br>ckniffin : 3/2/2006<br>tkritzer : 8/10/2004<br>cwells : 11/12/2003<br>cwells : 6/26/2003<br>terry : 6/23/2003<br>alopez : 9/9/2002<br>mcapotos : 11/6/2000<br>mcapotos : 10/30/2000<br>terry : 10/20/2000<br>mgross : 12/27/1999<br>terry : 12/15/1999<br>alopez : 11/30/1999<br>alopez : 11/30/1999<br>alopez : 11/30/1999
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</div>
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<div>
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<h3>
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<span class="mim-font">
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SOLUTE CARRIER FAMILY 17 (ACIDIC SUGAR TRANSPORTER), MEMBER 5; SLC17A5
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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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<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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SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER 5<br />
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SIALIN
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</span>
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</h4>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: SLC17A5</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 34566007, 87074006;
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</span>
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</p>
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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: 6q13
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Genomic coordinates <span class="small">(GRCh38)</span> : 6:73,593,379-73,653,992 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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6q13
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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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Salla disease
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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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604369
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Sialic acid storage disorder, infantile
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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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269920
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The SLC17A5 gene encodes a vesicular excitatory amino acid transporter (VEAT) with dual physiologic functions. When present in synaptic vesicles in the central nervous system, sialin is responsible for vesicular storage and subsequent exocytosis of aspartate and glutamate. When present in lysosomes, it acts as an H(+)-coupled sialic acid exporter (Miyaji et al., 2008). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using a positional cloning approach in a search for the gene that is mutant in sialic acid storage diseases (see 269920 and 604369) that map to chromosome 6q14-q15, Verheijen et al. (1999) identified the SLC17A5 gene. The isolated sequence encoded a predicted 495-residue protein with homology to members of the anion/cation symporter (ACS) family of transporters. This family contains eukaryotic inorganic anion transporters (such as Na+/phosphate cotransporters) as well as prokaryotic organic anion transporters (including H+/acid sugar symporters for hexuronate and glucarate). Verheijen et al. (1999) suggested that the product of the SLC17A5 gene be designated 'sialin' because of its relation to sialic acid storage diseases. The sialin protein contains a characteristic motif in the fourth transmembrane-spanning domain that is present in all members of the ACS family. They could demonstrate homology of sialin with human Na+/phosphate symporters by sequence alignment. For example, sialin shows 34% sequence identity with NPT1 (SLC17A1; 182308). Only the N- and C-terminal regions do not show homology. Verheijen et al. (1999) found extensive homology of human sialin with proteins in other species. On Northern blot analysis of human tissues, Verheijen et al. (1999) found ubiquitous expression of an approximately 4.5-kb major transcript of SLC17A5, and an additional transcript of approximately 3.5 kb. They also observed a ubiquitously expressed 1.8-kb band after very long exposures. They suspected that these different transcripts are due to multiple poly(A) addition sites. The SLC17A5 gene is also known as AST. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Mancini et al. (1991) demonstrated a proton-driven carrier for sialic acid in human lysosomal membranes. This transporter had similar properties to those previously identified in rat liver. By measuring the uptake kinetics of labeled glucuronic acid, they excluded the existence of more than 1 acidic monosaccharide carrier. Uptake studies with labeled sialic acid and glucuronic acid in lysosomal membrane vesicles from cultured fibroblasts from patients with different clinical forms of sialic acid storage disease showed defective carrier-mediated transport for both sugars. Further evidence that the defective transport of acidic sugars represents the primary genetic defect in sialic acid storage diseases was provided by the observation of reduced, half-normal transport rates in lymphoblast-derived lysosomal membrane vesicles from 5 unrelated obligate heterozygotes. This was the first observation of a human lysosomal transport defect for multiple physiologic compounds. </p><p>Havelaar et al. (1998) studied the lysosomal sialic acid transporter as a first step toward understanding the molecular defect(s) in the clinically heterogeneous forms of sialic acid storage disease. They purified the sialic acid transporter from lysosomal membranes of rat liver to apparent homogeneity and compared its functional properties with those of other monocarboxylate transporters present in the plasma membrane of various mammalian cells. They found striking biochemical and structural similarities of the sialic acid transporter with the known monocarboxylate transporters of the plasma membrane: MCT1 (600682), MCT2 (603654), and MCT3 (610409). </p><p>Studies by Havelaar et al. (1999) indicated that the mammalian sialic acid carrier, which is defective in the transport of sialic acid through the lysosomal membrane in sialic acid storage disease, is a carrier for other organic anions. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD; 269920) or a slowly progressive adult form, which is prevalent in Finland and referred to as Salla disease (SD; 604369), because of its geographic distribution. The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by magnetic resonance imaging. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine. The locus for Salla disease was assigned to a region of approximately 200 kb on 6q14-q15 in a linkage study using Finnish families (Haataja et al., 1994; Schleutker et al., 1995). Salla disease and ISSD were further shown to be allelic disorders (Schleutker et al. (1995)). By a functional and positional candidate gene approach, Verheijen et al. (1999) traced mutations responsible for both Salla disease and ISSD to mutations in SLC17A5. They found a homozygous SLC17A5 mutation (arg39 to cys; 604322.0001) in 5 Finnish families with Salla disease and 6 other SLC17A5 mutations in either homozygous or compound heterozygous state in 6 patients of other ethnic origins. </p><p>Aula et al. (2000) identified a large number of mutations in SLC17A5 in patients presenting with either Salla disease or the infantile sialic acid storage disorder. All 80 Finnish patients with Salla disease had the R39C mutation (604322.0001); 91% of them were homozygous for this old founder mutation. The compound heterozygous patients, with the founder mutation in only 1 allele, presented with a more severe phenotype than did the homozygous patients. The same R39C mutation was also found in most of the Swedish patients with SD and in heterozygous form in 5 patients from central Europe who presented with an unusually severe (intermediate) SD phenotype. Ten different mutations, including deletions, insertions, and missense and nonsense mutations, were identified in patients with the most severe ISSD phenotype. </p><p>Kleta et al. (2003) presented 2 patients with clinical, biochemical, and molecular data indicative of lysosomal free sialic acid storage disorders. One patient, with a severe clinical course typical of ISSD, had 86-fold elevated levels of fibroblast free sialic acid, with 62% in the lysosomal fraction. His SLC17A5 mutations included a 148-bp deletion of exon 9 (604322.0003) and a 15-bp deletion in exon 6 (604322.0007). Another patient, with 'intermediate severe' Salla disease, had 9-fold elevated levels of free sialic acid in cultured fibroblasts, of which 87% resided in the lysosomal fraction. She was compound heterozygous for the SLC17A5 mutation commonly found in Finnish Salla disease patients, R39C (604322.0001), and a 15-bp deletion found in ISSD patients (604322.0007). </p><p>Biancheri et al. (2005) identified homozygosity for the K136E (604322.0009) mutation in an Italian patient with a severe form of Salla disease. The patient demonstrated psychomotor delay and nystagmus within the first months of life. He later showed severe hypomyelination on brain MRI and peripheral nerve involvement. Functional expression studies showed that the R39C and K136E mutant proteins retained some residual transport activity (Morin et al., 2004 and Wreden et al., 2005). </p><p>Strauss et al. (2005) evaluated an Old Order Mennonite child for gross motor delay, truncal ataxia, and slow linear growth. Recognition of a similarly affected second cousin prompted a genomewide homozygosity mapping study using high-density SNP arrays. SNP genotypes from 2 affected individuals and their parents were used to localize the disorder to a 14.9-Mb region on chromosome 6. This region contained 55 genes, including SLC17A5. Direct sequencing of SLC17A5 in the proband demonstrated homozygosity for the R39C sequence variant (604322.0001), which is the common cause of Salla disease in Finland. Three additional Mennonite individuals, ages 8 months to 50 years, were subsequently identified by direct molecular genetic testing. Strauss et al. (2005) emphasized that this small-scale mapping study was rapid, inexpensive, and analytically simple. Previous diagnostic evaluation, which included subspecialty consultations, neuroimaging, and metabolic testing, was long, costly, and did not yield a diagnosis. In families with shared genetic heritage, genomewide SNP arrays with relatively high marker density allow disease gene mapping studies to be incorporated into routine diagnostic evaluations. The oldest affected Mennonite patient was bedridden, spastic, and dystonic at age 51 years. Cognitive and motor functions had been relatively stable until the end of her fifth decade, after which she deteriorated rapidly over a period of 2 to 3 years. An affected younger sister died at age 46 years. </p><p>In a patient with Salla disease, Shinawi et al. (2025) identified compound heterozygous mutations in the SLC17A5 gene: a maternally inherited 1-bp deletion (c.533delC; 604322.0002) and a paternally inherited mosaic 184-bp deletion (604322.0010) encompassing the 3-prime end of exon 3, predicted to result in skipping of exon 3. The 184-bp deletion was not detected in the patient's blood by whole-exome or whole-genome sequencing, but was identified in RNAseq in the patient's fibroblasts. Long-read sequencing showed that the 184-bp deletion was present in 25% of paternally inherited alleles in fibroblasts and in 42% of paternally inherited alleles in muscle, but was not present in blood or buccal cells. Coexpression of wildtype SLC17A5 and SLC17A5 with skipping of exon 3 in HEK293 cells resulted in decreased expression of both SLC17A5 constructs, suggesting a dominant-negative effect of the exon 3-skipped constructs. Although both SLC17A5 mutations identified in this patient were predicted to cause a severe sialic storage disorder presentation, Shinawi et al. (2025) hypothesized that the mosaicism of the 184-bp deletion led to a milder Salla disease presentation. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Miyaji et al. (2008) presented evidence that the SLC17A5 gene acts as a vesicular aspartate transporter in the brain. Sialin was found to be present in rat hippocampal synaptic vesicles and synaptic-like microvesicles in the pineal gland. RNA interference of sialin expression decreased exocytosis of aspartate and glutamate in pinealocytes. In addition, proteoliposomes containing purified sialin actively accumulated aspartate and glutamate, consistent with a transporter function. The mouse sialin mutant R39C (604322.0001), which is found in patients with Salla disease (604369), was completely inactive in the energy-dependent uptake of aspartate and glutamic acid, but retained 34% of wildtype sialic acid/H+ cotransport activity. In contrast, mouse sialin mutant H183R (604322.0004), which is found in the severe infantile form of the human disorder ISSD (269920), showed active energy-dependent transport, but inactive H+/sialic acid cotransport. Miyaji et al. (2008) suggested that impaired aspartergic and glutamatergic neurotransmission could explain the severe CNS manifestations in patients with Salla disease who survive to adulthood. The results strongly suggested that sialin possesses dual physiologic functions as a vesicular transporter involved in neurotransmission and as a lysosomal transporter. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>10 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 SALLA DISEASE</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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SLC17A5, ARG39CYS
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<br />
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SNP: rs80338794,
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gnomAD: rs80338794,
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ClinVar: RCV000005967, RCV000414141, RCV000763563, RCV001095363
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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 5 Finnish patients with classic Salla disease (SD; 604369), Verheijen et al. (1999) found an arg39-to-cys (R39C) missense mutation caused by a homozygous C-to-T transition at nucleotide 115 of the SLC17A5 gene. Aula et al. (2000) found that the homozygous R39C mutation was associated with a milder phenotype (Salla disease). </p><p>In monozygotic twin girls living in North America and apparently without Finnish ancestry, Martin et al. (2003) described Salla disease caused by the arg39-to-cys mutation. Their clinical histories were typical of the insidious onset and protracted course of Salla disease as described in Finnish patients with the R39C mutation. Their neonatal period was normal and hypotonia with mild delays and gross motor abilities became obvious only at the age of approximately 1 year. The hypotonia progressed to spasticity, as is often the case in Salla disease. Ocular nystagmus, often described as a common childhood feature of Salla disease, was absent in the twins. However, both girls demonstrated truncal ataxia, another prominent feature of Salla disease. Initial language delay and later language loss provided evidence of the progressive nature of the disorder. Neurologic progression often becomes evident as intelligence declines into adulthood to a point at which the IQ rarely exceeds 20. Although the facies of the twins appeared somewhat coarse, facial coarseness is not typically described in Salla disease until adulthood. Generalized skeletal abnormalities such as dysostosis multiplex, typical of many other lysosomal storage diseases including infantile free sialic acid storage disease, are not seen in Salla disease. </p><p>Kleta et al. (2003) found the R39C mutation typical of Salla disease in compound heterozygous state with the 15-bp deletion (604322.0007) typical of ISSD, in a North American patient with 'intermediate severe' Salla disease. </p><p>Functional expression studies showed that the R39C mutant protein retained some residual transport activity (Morin et al., 2004 and Wreden et al., 2005). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 INFANTILE SIALIC ACID STORAGE DISORDER</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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SALLA DISEASE, INCLUDED
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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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SLC17A5, 1-BP DEL, 533C
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<br />
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SNP: rs727504156,
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gnomAD: rs727504156,
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ClinVar: RCV000005968, RCV000153956, RCV000588857, RCV005042299
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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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<div class="mim-changed mim-change"><p />
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<p><strong><em>Infantile Sialic Acid Storage Disorder</em></strong>
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</p></div>
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<p>In a French patient with infantile sialic acid storage disease (ISSD; 269920), Verheijen et al. (1999) found compound heterozygosity for 2 frameshift mutations in the SLC17A5 gene: 533delC, deleting 1 bp from codon 178 and producing a frameshift resulting in 33 new amino acids, then premature termination; and a 148-bp deletion (1112-1259; 604322.0003) producing a frameshift resulting in 27 new amino acids, then premature termination. This French patient, designated DR, was reported earlier by Mancini et al. (1991). </p>
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<div class="mim-changed mim-change"><p />
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<p><strong><em>Salla Disease</em></strong>
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</p></div>
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<div class="mim-changed mim-change"><p>In a patient with Salla disease (SD; 604369), Shinawi et al. (2025) identified compound heterozygous mutations in the SLC17A5 gene: a maternally inherited c.533delC mutation (c.533delC, NM_012434.5) in exon 4, resulting in a frameshift and premature termination (Thr178AsnfsTer34), and a paternally inherited mosaic 184-bp deletion (604322.0010) encompassing the 3-prime end of exon 3, predicted to result in skipping of exon 3. The mutations were identified by whole-exome sequencing and whole-genome sequencing in patient blood, RNAseq, and targeted capture with massively parallel sequencing in patient fibroblasts. Long-read sequencing showed that the 184-bp deletion was present in 25% of paternally inherited alleles in fibroblasts and in 42% of paternally inherited alleles in muscle, and was not present in blood or buccal cells. The 533delC mutation was present in the gnomAD database at an allele frequency of 93/1178886. </p></div>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 INFANTILE SIALIC ACID STORAGE DISORDER</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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SLC17A5, 148-BP DEL, NT1112
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<br />
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|
|
SNP: rs146095590,
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|
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gnomAD: rs146095590,
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|
|
ClinVar: RCV000005969, RCV000409414, RCV003137984
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the 148-bp deletion in the SLC17A5 gene (1112-1259) that was found in compound heterozygous state in a patient with infantile sialic acid storage disease (ISSD; 269920) by Verheijen et al. (1999), see 604322.0002. </p><p>Kleta et al. (2003) determined that the 148-bp deletion of exon 9, due to a G-to-A splice site mutation in position 1 of intron 9, was found in compound heterozygous state with a 15-bp deletion (del801-815) in exon 6 (604322.0007) in a North American patient with a severe clinical course typical of ISSD. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 INFANTILE SIALIC ACID STORAGE DISORDER</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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SLC17A5, HIS183ARG
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<br />
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SNP: rs119491109,
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gnomAD: rs119491109,
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ClinVar: RCV000005970, RCV004566684
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Yugoslavian patient with infantile sialic acid storage disease (ISSD; 269920), Verheijen et al. (1999) found compound heterozygosity for 2 missense mutations: his183 to arg (H183R) and pro334 to arg (P334R; 604322.0005), occurring in transmembrane domains 4 and 8, respectively. This patient had previously been reported by Tondeur et al. (1982). </p>
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</span>
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|
</div>
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<div>
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<br />
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|
</div>
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</div>
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|
<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 INFANTILE SIALIC ACID STORAGE DISORDER</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC17A5, PRO334ARG
|
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|
<br />
|
|
|
|
SNP: rs119491110,
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|
|
|
|
|
|
|
ClinVar: RCV000005971, RCV002496276, RCV002512816
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the pro334-to-arg (P334R) mutation in the SLC17A5 gene that was found in compound heterozygous state in a patient with infantile sialic acid storage disease (ISSD; 269920) by Verheijen et al. (1999), see 604322.0004. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
|
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 INFANTILE SIALIC ACID STORAGE DISORDER</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
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|
SLC17A5, 500-BP INS, NT978
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|
|
<br />
|
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|
|
|
|
ClinVar: RCV000005972
|
|
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|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian patient with infantile sialic acid storage disease (ISSD; 269920), Verheijen et al. (1999) found homozygosity for a 500-bp insertion after nucleotide 978 or 979. This patient had been reported by Berra et al. (1995). </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
|
|
</div>
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|
|
</div>
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 INFANTILE SIALIC ACID STORAGE DISORDER</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
SALLA DISEASE, INCLUDED
|
|
</span>
|
|
</div>
|
|
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|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC17A5, 15-BP DEL, NT802
|
|
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|
|
<br />
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|
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|
|
|
|
|
ClinVar: RCV000005973, RCV000049971, RCV000485185, RCV005031539
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 French Canadian patients with infantile sialic acid storage disease (ISSD; 269920) reported by Lemyre et al. (1999) and in 1 English patient reported by Cameron et al. (1990), Verheijen et al. (1999) found a 15-bp deletion (nucleotides 802-816) resulting in the deletion of amino acids serine, serine, leucine, arginine, and asparagine in the cytosolic loop between transmembrane domains 6 and 7 of the SLC17A5 gene product. </p><p>Biancheri et al. (2002) described 2 Italian brothers with sialic acid storage disease that resembled Salla disease as observed in the Finnish population (SD; 604369) rather than ISSD. Both brothers showed moderate intellectual disability, spastic ataxic syndrome, hypomyelination and cerebellar ataxia on MRI, and lysosomal storage, all typical of Salla disease. In one of the alleles of the younger brother, Biancheri et al. (2002) found the same 15-bp deletion in exon 6 that had been found by Verheijen et al. (1999). No R39C mutation (604322.0001) was found. The older brother had died at the age of 20 years and DNA testing was not performed. The second mutation in the younger brother was presumed to lie in a noncoding area of the gene. </p><p>Kleta et al. (2003) detected this mutation in compound heterozygous state with an R39C substitution (604322.0001) in a North American patient with Salla disease. Kleta et al. (2003) described this mutation as 801 815del15 and stated that they believed the mutation detected by them was the same as that described by Verheijen et al. (1999). </p>
|
|
</span>
|
|
</div>
|
|
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|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-text-font">
|
|
<strong>.0008 MOVED TO 604322.0007</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 SALLA DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC17A5, LYS136GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338795,
|
|
|
|
|
|
gnomAD: rs80338795,
|
|
|
|
|
|
ClinVar: RCV000020682, RCV000412731, RCV000763562, RCV001095364
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Salla disease (SD; 604369), Aula et al. (2000) identified compound heterozygosity for 2 mutations in the SLC17A5 gene: the common R39C (604322.0001) mutation and a 406A-G transition in exon 3, resulting in a lys136-to-glu (K136E) substitution in the cytosolic loop just before the third transmembrane domain. </p><p>Biancheri et al. (2005) found homozygosity for the K136E mutation in an Italian patient with a severe form of Salla disease. The patient demonstrated psychomotor delay and nystagmus within the first months of life. He later showed severe hypomyelination on brain MRI and peripheral nerve involvement. Functional expression studies showed that the K136E mutant protein retained some residual transport activity (Morin et al., 2004 and Wreden et al., 2005). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 SALLA DISEASE, MOSAIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC17A5, 184-BP DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV005055416
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<div class="mim-changed mim-change"><p>For discussion of the mosaic 184-bp deletion (chr6.73,641,566-73,641,749, GRCh38) encompassing the 3-prime end of exon 3 in the SLC17A5 gene, predicted to result in skipping of exon 3, that was identified in compound heterozygous state in a patient with Salla disease (SD; 604369) by Shinawi et al. (2025), see 604322.0002. </p></div>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Aula, N., Salomaki, P., Timonen, R., Verheijen, F., Mancini, G., Mansson, J.-E., Aula, P., Peltonen, L.
|
|
<strong>The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.</strong>
|
|
Am. J. Hum. Genet. 67: 832-840, 2000.
|
|
|
|
|
|
[PubMed: 10947946]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/303077]
|
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Berra, B., Gornati, R., Rapelli, S., Gatti, R., Mancini, G. M. S., Ciana, G., Bembi, B.
|
|
<strong>Infantile sialic acid storage disease: biochemical studies.</strong>
|
|
Am. J. Med. Genet. 58: 24-31, 1995.
|
|
|
|
|
|
[PubMed: 7573152]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320580107]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Biancheri, R., Rossi, A., Verbeek, H. A., Schot, R., Corsolini, F., Assereto, S., Mancini, G. M. S., Verheijen, F. W., Minetti, C., Filocamo, M.
|
|
<strong>Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.</strong>
|
|
Neurogenetics 6: 195-199, 2005.
|
|
|
|
|
|
[PubMed: 16170568]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s10048-005-0011-3]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Biancheri, R., Verbeek, E., Rossi, A., Gaggero, R., Roccatagliata, L., Gatti, R., van Diggelen, O., Verheijen, F. W., Mancini, G. M. S.
|
|
<strong>An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.</strong>
|
|
Clin. Genet. 61: 443-447, 2002.
|
|
|
|
|
|
[PubMed: 12121352]
|
|
|
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|
|
[Full Text: https://doi.org/10.1034/j.1399-0004.2002.610608.x]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cameron, P. D., Dubowitz, V., Besley, G. T. N., Fensom, A. H.
|
|
<strong>Sialic acid storage disease.</strong>
|
|
Arch. Dis. Child. 65: 314-315, 1990.
|
|
|
|
|
|
[PubMed: 2334213]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/adc.65.3.314]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Haataja, L., Schleutker, J., Laine, A.-P., Renlund, M., Savontaus, M.-L., Dib, C., Weissenbach, J., Peltonen, L., Aula, P.
|
|
<strong>The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.</strong>
|
|
Am. J. Hum. Genet. 54: 1042-1049, 1994.
|
|
|
|
|
|
[PubMed: 8198127]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Havelaar, A. C., Beerens, C. E. M. T., Mancini, G. M. S., Verheijen, F. W.
|
|
<strong>Transport of organic anions by the lysosomal sialic acid transporter: a functional approach towards the gene for sialic acid storage disease.</strong>
|
|
FEBS Lett. 446: 65-68, 1999.
|
|
|
|
|
|
[PubMed: 10100616]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0014-5793(99)00187-8]
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Havelaar, A. C., Mancini, G. M. S., Beerens, C. E. M. T., Souren, R. M. A., Verheijen, F. W.
|
|
<strong>Purification of the lysosomal sialic acid transporter: functional characteristics of a monocarboxylate transporter.</strong>
|
|
J. Biol. Chem. 273: 34568-34574, 1998.
|
|
|
|
|
|
[PubMed: 9852127]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.273.51.34568]
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kleta, R., Aughton, D. J., Rivkin, M. J., Huizing, M., Strovel, E., Anikster, Y., Orvisky, E., Natowicz, M., Krasnewich, D., Gahl, W. A.
|
|
<strong>Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.</strong>
|
|
Am. J. Med. Genet. 120A: 28-33, 2003.
|
|
|
|
|
|
[PubMed: 12794688]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.20024]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lemyre, E., Russo, P., Melancon, S. B., Gagne, R., Potier, M., Lambert, M.
|
|
<strong>Clinical spectrum of infantile free sialic acid storage disease.</strong>
|
|
Am. J. Med. Genet. 82: 385-391, 1999.
|
|
|
|
|
|
[PubMed: 10069709]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mancini, G. M. S., Beerens, C. E. M. T., Aula, P. P., Verheijen, F. W.
|
|
<strong>Sialic acid storage diseases: a multiple lysosomal transport defect for acidic monosaccharides.</strong>
|
|
J. Clin. Invest. 87: 1329-1335, 1991.
|
|
|
|
|
|
[PubMed: 2010546]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI115136]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Martin, R. A., Slaugh, R., Natowicz, M., Pearlman, K., Orvisky, E., Krasnewich, D., Kleta, R., Huizing, M., Gahl, W. A.
|
|
<strong>Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.</strong>
|
|
Am. J. Med. Genet. 120A: 23-27, 2003.
|
|
|
|
|
|
[PubMed: 12794687]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.10246]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Miyaji, T., Echigo, N., Hiasa, M., Senoh, S., Omote, H., Moriyama, Y.
|
|
<strong>Identification of a vesicular aspartate transporter.</strong>
|
|
Proc. Nat. Acad. Sci. 105: 11720-11724, 2008.
|
|
|
|
|
|
[PubMed: 18695252]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.0804015105]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Morin, P., Sagne, C., Gasnier, B.
|
|
<strong>Functional characterization of wild-type and mutant human sialin.</strong>
|
|
EMBO J. 23: 4560-4570, 2004.
|
|
|
|
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[PubMed: 15510212]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.emboj.7600464]
|
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|
|
|
|
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|
|
</li>
|
|
|
|
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|
|
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|
|
Schleutker, J., Laine, A.-P., Haataja, L., Renlund, M., Weissenbach, J., Aula, P., Peltonen, L.
|
|
<strong>Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.</strong>
|
|
Genomics 27: 286-292, 1995.
|
|
|
|
|
|
[PubMed: 7557994]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1995.1044]
|
|
|
|
|
|
</p>
|
|
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|
|
|
|
<li>
|
|
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|
|
Schleutker, J., Leppanen, P., Mansson, J.-E., Erikson, A., Weissenbach, J., Peltonen, L., Aula, P.
|
|
<strong>Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.</strong>
|
|
Am. J. Hum. Genet. 57: 893-901, 1995.
|
|
|
|
|
|
[PubMed: 7573051]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
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Shinawi, M., Wegner, D. J., Paul, A. J., Buchser, W., Schmidt, R., Sharma, J., Sardiello, M., Sisco, K., Manwaring, L., Reynolds, M., Fulton, R., Fronick, C., Shaver, A., Huang, T. Y., Carroll, A., Roessler, K., Halpern, A. L., Undiagnosed Diseases Network, Dickson, P. I., Wambach, J. A.
|
|
<strong>Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.</strong>
|
|
Molec. Genet. Metab. 144: 109004, 2025.
|
|
|
|
|
|
[PubMed: 39742826]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2024.109004]
|
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|
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</p>
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</li>
|
|
|
|
<li>
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<p class="mim-text-font">
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Strauss, K. A., Puffenberger, E. G., Craig, D. W., Panganiban, C. B., Lee, A. M., Hu-Lince, D., Stephan, D. A., Morton, D. H.
|
|
<strong>Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.</strong>
|
|
Am. J. Med. Genet. 138A: 262-267, 2005.
|
|
|
|
|
|
[PubMed: 16158439]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.30961]
|
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|
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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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Tondeur, M., Libert, J., Vamos, E., Van Hoof, F., Thomas, G. H., Strecker, G.
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<strong>Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings.</strong>
|
|
Europ. J. Pediat. 139: 142-147, 1982.
|
|
|
|
|
|
[PubMed: 7151835]
|
|
|
|
|
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[Full Text: https://doi.org/10.1007/BF00441499]
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</p>
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</li>
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<li>
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Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E. M. T., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., Mancini, G. M. S.
|
|
<strong>A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.</strong>
|
|
Nature Genet. 23: 462-465, 1999.
|
|
|
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[PubMed: 10581036]
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[Full Text: https://doi.org/10.1038/70585]
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Wreden, C. C., Wlizla, M., Reimer, R. J.
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<strong>Varied mechanisms underlie the free sialic acid storage disorders.</strong>
|
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J. Biol. Chem. 280: 1408-1416, 2005.
|
|
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|
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[PubMed: 15516337]
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[Full Text: https://doi.org/10.1074/jbc.M411295200]
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