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Entry
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- *608310 - ARGININOSUCCINATE LYASE; ASL
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*608310</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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="#geneStructure">Gene Structure</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#evolution">Evolution</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/608310">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000126522;t=ENST00000304874" 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=435" 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=608310" 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 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=ENSG00000126522;t=ENST00000304874" 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_000048,NM_001024943,NM_001024944,NM_001024946" 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_000048" 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=608310" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</div>
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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=01948&isoform_id=01948_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/ASL" 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/28878,179083,179087,179089,179091,14198270,18033920,21620111,31541964,37782430,68303542,68303547,68303549,119628349,119628350,119628351,124028641,194373837,221046056,957948949,957948952,957948955" 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/P04424" 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=435" 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=ENSG00000126522;t=ENST00000304874" 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=ASL" 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=ASL" 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+435" 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/ASL" 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:435" 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/435" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr7&hgg_gene=ENST00000450043.2&hgg_start=66075819&hgg_end=66093576&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:746" 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:746" 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/asl" 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=608310[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=608310[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/ASL/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/ENSG00000126522" 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=ASL" 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=ASL" 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=ASL" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/ASL" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ASL&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/PA25046" 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:746" 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/FBgn0032076.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:88084" 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/ASL#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:88084" 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/435/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=435" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1152" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:435" 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=ASL&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> 41013004<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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608310
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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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ARGININOSUCCINATE LYASE; ASL
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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ARGININOSUCCINASE
|
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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=ASL" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ASL</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/7/298?start=-3&limit=10&highlight=298">7q11.21</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:66075819-66093576&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">7:66,075,819-66,093,576</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
|
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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|
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|
<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/7/298?start=-3&limit=10&highlight=298">
|
|
7q11.21
|
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</a>
|
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</span>
|
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</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Argininosuccinic aciduria
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/207900"> 207900 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/608310" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/608310" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
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<p>The ASL gene encodes the subunit of argininosuccinate lyase (<a href="https://enzyme.expasy.org/EC/4.3.2.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 4.3.2.1</a>) is a urea cycle enzyme that catalyzes the cleavage of argininosuccinate to fumarate and arginine, an essential step in the process of detoxification of ammonia via the urea cycle (<a href="#9" class="mim-tip-reference" title="O'Brien, W. E., McInnes, R., Kalumuck, K., Adcock, M. <strong>Cloning and sequence analysis of cDNA for human argininosuccinate lyase.</strong> Proc. Nat. Acad. Sci. 83: 7211-7215, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3463959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3463959</a>] [<a href="https://doi.org/10.1073/pnas.83.19.7211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3463959">O'Brien et al., 1986</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3463959" 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 antibodies specific for argininosuccinate lyase to screen a human liver cDNA library, <a href="#9" class="mim-tip-reference" title="O'Brien, W. E., McInnes, R., Kalumuck, K., Adcock, M. <strong>Cloning and sequence analysis of cDNA for human argininosuccinate lyase.</strong> Proc. Nat. Acad. Sci. 83: 7211-7215, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3463959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3463959</a>] [<a href="https://doi.org/10.1073/pnas.83.19.7211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3463959">O'Brien et al. (1986)</a> isolated a cDNA corresponding to the human ASL gene. The cDNA encodes a deduced protein of 463 amino acids with a predicted molecular mass of 52 kD, and the active enzyme is a homotetramer. The amino acid sequence of the human enzyme shows 56% homology to the yeast enzyme. <a href="#6" class="mim-tip-reference" title="Matuo, S., Tatsuno, M., Kobayashi, K., Saheki, T., Miyata, T., Iwanaga, S., Amaya, Y., Mori, M. <strong>Isolation of cDNA clones of human argininosuccinate lyase and corrected amino acid sequence.</strong> FEBS Lett. 234: 395-399, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3391281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3391281</a>] [<a href="https://doi.org/10.1016/0014-5793(88)80124-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3391281">Matuo et al. (1988)</a> isolated clones of human ASL cDNA and determined the nucleotide sequence. They corrected some minor errors in the sequence reported by <a href="#9" class="mim-tip-reference" title="O'Brien, W. E., McInnes, R., Kalumuck, K., Adcock, M. <strong>Cloning and sequence analysis of cDNA for human argininosuccinate lyase.</strong> Proc. Nat. Acad. Sci. 83: 7211-7215, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3463959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3463959</a>] [<a href="https://doi.org/10.1073/pnas.83.19.7211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3463959">O'Brien et al. (1986)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3463959+3391281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Abramson, R. D., Barbosa, P., Kalumuck, K., O'Brien, W. E. <strong>Characterization of the human argininosuccinate lyase gene and analysis of exon skipping.</strong> Genomics 10: 126-132, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2045097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2045097</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90492-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2045097">Abramson et al. (1991)</a> found that the DNA sequences encoded by exon 7 were deleted in approximately 5 to 10% of the mature mRNA in all tissue sources examined, suggesting alternative splicing. <a href="#15" class="mim-tip-reference" title="Walker, D. C., McCloskey, D. A., Simard, L. R., McInnes, R. R. <strong>Identification of a mutation frequently involved in interallelic complementation at the human argininosuccinic acid lyase locus. (Abstract)</strong> Am. J. Hum. Genet. 47 (suppl.): A169 only, 1990."None>Walker et al. (1990)</a> presented evidence for an alternatively spliced ASL transcript in which exon 2 is removed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2045097" 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="Abramson, R. D., Barbosa, P., Kalumuck, K., O'Brien, W. E. <strong>Characterization of the human argininosuccinate lyase gene and analysis of exon skipping.</strong> Genomics 10: 126-132, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2045097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2045097</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90492-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2045097">Abramson et al. (1991)</a> demonstrated that the ASL gene contains 16 exons. The exon structure of the gene is identical to that of the rat and similar to that of the delta-crystallin genes in the chicken. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2045097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Linnebank, M., Tschiedel, E., Haberle, J., Linnebank, A., Willenbring, H., Kleijer, W. J., Koch, H. G. <strong>Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.</strong> Hum. Genet. 111: 350-359, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12384776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12384776</a>] [<a href="https://doi.org/10.1007/s00439-002-0793-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12384776">Linnebank et al. (2002)</a> completed the structure and sequence of the ASL gene and determined that it has 17 exons. The first, exon zero (0), codes only for the 5-untranslated region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12384776" 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="#17" class="mim-tip-reference" title="Zhao, S., Xu, W., Jiang, W., Yu, W., Lin, Y., Zhang, T., Yao, J., Zhou, L., Zeng, Y., Li, H., Li, Y., Shi, J., and 10 others. <strong>Regulation of cellular metabolism by protein lysine acetylation.</strong> Science 327: 1000-1004, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20167786/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20167786</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20167786[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/10.1126/science.1179689" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20167786">Zhao et al. (2010)</a> showed that lysine acetylation is a prevalent modification in enzymes that catalyze intermediate metabolism in the human liver. Virtually every enzyme in glycolysis, gluconeogenesis, the tricarboxylic acid (TCA) cycle, the urea cycle, fatty acid metabolism, and glycogen metabolism was found to be acetylated in human liver tissue. The concentration of metabolic fuels, such as glucose, amino acids, and fatty acids, influenced the acetylation status of metabolic enzymes. Acetylation activated enoyl-coenzyme A hydratase/3-hydroxyacyl-coenzyme A dehydrogenase (<a href="/entry/607037">607037</a>) in fatty acid oxidation and malate dehydrogenase (see <a href="/entry/154200">154200</a>) in the TCA cycle, inhibited argininosuccinate lyase in the urea cycle, and destabilized phosphoenolpyruvate carboxykinase (<a href="/entry/261680">261680</a>) in gluconeogenesis. <a href="#17" class="mim-tip-reference" title="Zhao, S., Xu, W., Jiang, W., Yu, W., Lin, Y., Zhang, T., Yao, J., Zhou, L., Zeng, Y., Li, H., Li, Y., Shi, J., and 10 others. <strong>Regulation of cellular metabolism by protein lysine acetylation.</strong> Science 327: 1000-1004, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20167786/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20167786</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20167786[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/10.1126/science.1179689" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20167786">Zhao et al. (2010)</a> concluded that acetylation plays a major role in metabolic regulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20167786" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Naylor, S. L., Klebe, R. J., Shows, T. B. <strong>Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter-q22 region of human chromosome 7 by bioautography.</strong> Proc. Nat. Acad. Sci. 75: 6159-6162, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/282632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">282632</a>] [<a href="https://doi.org/10.1073/pnas.75.12.6159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="282632">Naylor et al. (1978)</a> assigned the gene for ASL to chromosome 7. By analysis of genomic DNA from hamster-human cell hybrids, <a href="#9" class="mim-tip-reference" title="O'Brien, W. E., McInnes, R., Kalumuck, K., Adcock, M. <strong>Cloning and sequence analysis of cDNA for human argininosuccinate lyase.</strong> Proc. Nat. Acad. Sci. 83: 7211-7215, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3463959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3463959</a>] [<a href="https://doi.org/10.1073/pnas.83.19.7211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3463959">O'Brien et al. (1986)</a> assigned the ASL gene to chromosome 7. By in situ hybridization, <a href="#12" class="mim-tip-reference" title="Todd, S., McGill, J. R., McCombs, J. L., Moore, C. M., Weider, I., Naylor, S. L. <strong>cDNA sequence, interspecies comparison and gene mapping analysis of argininosuccinate lyase.</strong> Genomics 4: 53-59, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2644168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2644168</a>] [<a href="https://doi.org/10.1016/0888-7543(89)90314-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2644168">Todd et al. (1989)</a> mapped ASL to 7cen-q11.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2644168+3463959+282632" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Pseudogene</em></strong></p><p>
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<a href="#9" class="mim-tip-reference" title="O'Brien, W. E., McInnes, R., Kalumuck, K., Adcock, M. <strong>Cloning and sequence analysis of cDNA for human argininosuccinate lyase.</strong> Proc. Nat. Acad. Sci. 83: 7211-7215, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3463959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3463959</a>] [<a href="https://doi.org/10.1073/pnas.83.19.7211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3463959">O'Brien et al. (1986)</a> found that the 5-prime end of the ASL cDNA was also hybridized to a site on chromosome 22, which the authors assumed to be a pseudogene. <a href="#12" class="mim-tip-reference" title="Todd, S., McGill, J. R., McCombs, J. L., Moore, C. M., Weider, I., Naylor, S. L. <strong>cDNA sequence, interspecies comparison and gene mapping analysis of argininosuccinate lyase.</strong> Genomics 4: 53-59, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2644168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2644168</a>] [<a href="https://doi.org/10.1016/0888-7543(89)90314-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2644168">Todd et al. (1989)</a> also detected a sequence on chromosome 22. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2644168+3463959" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Linnebank, M., Tschiedel, E., Haberle, J., Linnebank, A., Willenbring, H., Kleijer, W. J., Koch, H. G. <strong>Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.</strong> Hum. Genet. 111: 350-359, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12384776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12384776</a>] [<a href="https://doi.org/10.1007/s00439-002-0793-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12384776">Linnebank et al. (2002)</a> identified a complete ASL homolog on chromosome 22q11.2 and stated that this so-called pseudogene is a regular gene with a promoter region, a poly-A signal, and 11 exons containing a typical initial exon and a terminal exon. The predicted coding sequence of the pseudogene shared more than 0.4 kb high homology with ASL cDNA. A GenBank search with a predicted cDNA revealed that the pseudogene might encode immunoglobulin-lambda-like mRNA (IGLL1; <a href="/entry/146770">146770</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12384776" 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="#13" class="mim-tip-reference" title="Trevisson, E., Salviati, L., Baldoin, M. C., Toldo, I., Casarin, A., Sacconi, S., Cesaro, L., Basso, G., Burlina, A. B. <strong>Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.</strong> Hum. Mutat. 28: 694-702, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17326097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17326097</a>] [<a href="https://doi.org/10.1002/humu.20498" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17326097">Trevisson et al. (2007)</a> identified a second ASL pseudogene located on chromosome 7 about 3 Mb upstream of the ASL gene, close to the centromere. There was no evidence of expression of this second pseudogene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17326097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In fibroblasts from a patient with ASL deficiency (<a href="/entry/207900">207900</a>) whose parents were consanguineous, <a href="#16" class="mim-tip-reference" title="Walker, D. C., McCloskey, D. A., Simard, L. R., McInnes, R. R. <strong>Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.</strong> Proc. Nat. Acad. Sci. 87: 9625-9629, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2263616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2263616</a>] [<a href="https://doi.org/10.1073/pnas.87.24.9625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2263616">Walker et al. (1990)</a> identified a homozygous mutation in the ASL gene (<a href="#0001">608310.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2263616" 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 27 unrelated patients with ASL deficiency, <a href="#5" class="mim-tip-reference" title="Linnebank, M., Tschiedel, E., Haberle, J., Linnebank, A., Willenbring, H., Kleijer, W. J., Koch, H. G. <strong>Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.</strong> Hum. Genet. 111: 350-359, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12384776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12384776</a>] [<a href="https://doi.org/10.1007/s00439-002-0793-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12384776">Linnebank et al. (2002)</a> identified 23 different mutations, 19 novel, in the ASL gene. Fifteen of the 54 alleles had an IVS5+1G-A splice site mutation (<a href="#0003">608310.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12384776" 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 5 patients with a biochemical variant of ASL deficiency in which there was residual enzyme activity and mild clinical symptoms, <a href="#4" class="mim-tip-reference" title="Kleijer, W. J., Garritsen, V. H., Linnebank, M., Mooyer, P., Huijmans, J. G. M., Mustonen, A., Simola, K. O. J., Arslan-Kirchner, M., Battini, R., Briones, P., Cardo, E., Mandel, H., Tschiedel, E., Wanders, R. J. A., Koch, H. G. <strong>Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in 5 unrelated families.</strong> J. Inherit. Metab. Dis. 25: 399-410, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12408190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12408190</a>] [<a href="https://doi.org/10.1023/a:1020108002877" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12408190">Kleijer et al. (2002)</a> identified several mutations in the ASL gene. R385C (<a href="#0004">608310.0004</a>), V178M (<a href="#0005">608310.0005</a>), and R379C (<a href="#0006">608310.0006</a>) were detected in homozygous states, whereas 1 patient was compound heterozygous for 2 known mutations, including Q286R (<a href="#0002">608310.0002</a>). Prenatal diagnosis was successfully performed in 3 of the families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12408190" 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="#13" class="mim-tip-reference" title="Trevisson, E., Salviati, L., Baldoin, M. C., Toldo, I., Casarin, A., Sacconi, S., Cesaro, L., Basso, G., Burlina, A. B. <strong>Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.</strong> Hum. Mutat. 28: 694-702, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17326097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17326097</a>] [<a href="https://doi.org/10.1002/humu.20498" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17326097">Trevisson et al. (2007)</a> identified 16 different mutations in the ASL gene, including 14 novel mutations, in 12 Italian patients from 10 families with ASL deficiency. All patients tested, except 1, had less than 5% residual enzyme activity. Mutations were scattered throughout the gene, but there were no genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17326097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="AlTassan, R., Bubshait, D., Imtiaz, F., Rahbeeni, Z. <strong>A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria.</strong> Europ. J. Med. Genet. 61: 307-311, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29326055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29326055</a>] [<a href="https://doi.org/10.1016/j.ejmg.2018.01.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29326055">AlTassan et al. (2018)</a> identified homozygous mutations in the ASL gene in 35 Arab patients with ASL deficiency, including 26 patients with the same nonsense mutation (Q354X; <a href="#0007">608310.0007</a>), 7 with an R186W missense mutation, and 2 with different splice site mutations. All of the patients had elevated plasma and urine argininosuccinic acid and plasma citrulline. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29326055" 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="#10" class="mim-tip-reference" title="Piatigorsky, J., O'Brien, W. E., Norman, B. L., Kalumuck, K., Wistow, G. J., Borras, T., Nickerson, J. M., Wawrousek, E. F. <strong>Gene sharing by delta-crystallin and argininosuccinate lyase.</strong> Proc. Nat. Acad. Sci. 85: 3479-3483, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3368457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3368457</a>] [<a href="https://doi.org/10.1073/pnas.85.10.3479" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3368457">Piatigorsky et al. (1988)</a> demonstrated an extraordinary similarity between the structural protein delta-crystallin of the lens of the duck and the enzyme argininosuccinate lyase. Delta-crystallin is the dominant crystallin in the lenses of birds and reptiles, but is absent from lenses of mammals. It appears that birds, being uricotelic, have relatively little use for the metabolic enzyme but use the protein as a structural element by producing very large amounts. Southern blot hybridization experiments with chicken delta-crystallin cDNA and human ASL cDNA, coupled with enzymatic tests, provided strong evidence that the crystallin and the enzyme share genes in an unusual evolutionary strategy. 'Gene sharing' was the designation given this phenomenon, i.e., when 2 distinct protein phenotypes are produced by the same transcriptional unit. Once an enzyme has been recruited to serve as a structural protein in lens, in addition to its conserved role in metabolism, it is subject to at least 2 independent sets of evolutionary pressure. This may lead to sequence modifications that enhance its function as a crystallin, or gene duplication may take place with subsequent partial separation of function (<a href="#11" class="mim-tip-reference" title="Piatigorsky, J., Wistow, G. <strong>The recruitment of crystallins: new functions precede gene duplication.</strong> Science 252: 1078-1079, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2031181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2031181</a>] [<a href="https://doi.org/10.1126/science.252.5009.1078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2031181">Piatigorsky and Wistow, 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2031181+3368457" 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="Erez, A., Nagamani, S. C. S., Shchelochkov, O. A., Premkumar, M. H., Campeau, P. M., Chen, Y., Garg, H. K., Li, L., Mian, A., Bertin, T. K., Black, J. O., Zeng, H., and 10 others. <strong>Requirement of argininosuccinate lyase for systemic nitric oxide production.</strong> Nature Med. 17: 1619-1626, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22081021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22081021</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22081021[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/nm.2544" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22081021">Erez et al. (2011)</a> created a hypomorphic mouse model of ASL deficiency and showed that this mouse has a distinct phenotype of multiorgan dysfunction and nitric oxide deficiency. Administration of nitrite, which can be converted into nitric oxide in vivo, rescued the manifestations of nitric oxide deficiency in hypomorphic Asl mice, and a nitric oxide synthase-independent nitric oxide donor restored nitric oxide-dependent vascular reactivity in humans with ASL deficiency. Mechanistic studies showed that ASL has a structural function in addition to the catalytic activity, by which it contributes to the formation of a multiprotein complex required for nitric oxide production. <a href="#3" class="mim-tip-reference" title="Erez, A., Nagamani, S. C. S., Shchelochkov, O. A., Premkumar, M. H., Campeau, P. M., Chen, Y., Garg, H. K., Li, L., Mian, A., Bertin, T. K., Black, J. O., Zeng, H., and 10 others. <strong>Requirement of argininosuccinate lyase for systemic nitric oxide production.</strong> Nature Med. 17: 1619-1626, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22081021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22081021</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22081021[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/nm.2544" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22081021">Erez et al. (2011)</a> concluded their data demonstrated an unappreciated role for ASL in nitric oxide synthase function and nitric oxide homeostasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22081021" 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="#7" class="mim-tip-reference" title="Nagamani, S. C. S., Campeau, P. M., Shchelochkov, O. A., Premkumar, M. H., Guse, K., Brunetti-Pierri, N., Chen, Y., Sun, Q., Tang, Y., Palmer, D., Reddy, A. K., Li, L., and 9 others. <strong>Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.</strong> Am. J. Hum. Genet. 90: 836-846, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22541557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22541557</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22541557[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.03.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22541557">Nagamani et al. (2012)</a> performed liver-directed gene therapy in a mouse model of argininosuccinic aciduria (ASA) to distinguish the relative contributions of the hepatic urea cycle defect from those of the nitric oxide deficiency in the ASA phenotype. Whereas the gene therapy corrected the ureagenesis defect, the systemic hypertension in mice could be corrected by treatment with an exogenous NO source. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22541557" 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> rs28940585 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28940585;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/rs28940585?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=rs28940585" 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=rs28940585" 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=RCV000002499" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002499" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002499</a>
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<p>In fibroblasts from a patient with late-onset ASL deficiency (<a href="/entry/207900">207900</a>) who was the product of a consanguineous mating, <a href="#16" class="mim-tip-reference" title="Walker, D. C., McCloskey, D. A., Simard, L. R., McInnes, R. R. <strong>Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.</strong> Proc. Nat. Acad. Sci. 87: 9625-9629, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2263616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2263616</a>] [<a href="https://doi.org/10.1073/pnas.87.24.9625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2263616">Walker et al. (1990)</a> identified a homozygous 283C-T change in exon 3 of the ASL gene, resulting in an arg95-to-cys (R95C) substitution within a 13-residue stretch that is identical in yeast and human ASL. Enzyme activity of the mutant protein was about 1%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2263616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 ARGININOSUCCINIC ACIDURIA</strong>
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ASL, GLN286ARG
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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> rs28941472 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28941472;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/rs28941472?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=rs28941472" 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=rs28941472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002500 OR RCV000078017" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002500, RCV000078017" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002500...</a>
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<p>In a cell line from a patient with neonatal-onset of argininosuccinic aciduria (<a href="/entry/207900">207900</a>) whose parents were consanguineous, <a href="#15" class="mim-tip-reference" title="Walker, D. C., McCloskey, D. A., Simard, L. R., McInnes, R. R. <strong>Identification of a mutation frequently involved in interallelic complementation at the human argininosuccinic acid lyase locus. (Abstract)</strong> Am. J. Hum. Genet. 47 (suppl.): A169 only, 1990."None>Walker et al. (1990)</a> identified an 857A-G transition in exon 11 of the ASL gene, resulting in a gln286-to-arg (Q286R) substitution. The mutation occurred in a region of 18 amino acids identical in yeast and human ASL, and in a region of 10 amino acids highly conserved in the family of class II fumarases. The mutant enzyme retained less than 3% of residual ASL activity.</p>
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<span class="mim-font">
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<strong>.0003 ARGININOSUCCINIC ACIDURIA</strong>
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</h4>
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ASL, IVS5DS, G-A, +1
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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> rs142637046 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs142637046;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/rs142637046?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=rs142637046" 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=rs142637046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000078011 OR RCV000409952" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000078011, RCV000409952" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000078011...</a>
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</span>
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<p><a href="#5" class="mim-tip-reference" title="Linnebank, M., Tschiedel, E., Haberle, J., Linnebank, A., Willenbring, H., Kleijer, W. J., Koch, H. G. <strong>Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.</strong> Hum. Genet. 111: 350-359, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12384776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12384776</a>] [<a href="https://doi.org/10.1007/s00439-002-0793-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12384776">Linnebank et al. (2002)</a> found that 15 of 54 ASL deficiency (<a href="/entry/207900">207900</a>)-related alleles had an IVS5+1G-A splice site mutation in the ASL gene that resulted in the deletion of 21 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12384776" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 ARGININOSUCCINIC ACIDURIA</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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ASL, ARG385CYS
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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> rs28940286 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28940286;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/rs28940286?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=rs28940286" 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=rs28940286" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <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> rs28940287 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28940287;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/rs28940287?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=rs28940287" 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=rs28940287" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002502" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002502" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002502</a>
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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 2 patients from a family with variable age of onset of ASL deficiency (<a href="/entry/207900">207900</a>) and considerable residual ASL activity, <a href="#4" class="mim-tip-reference" title="Kleijer, W. J., Garritsen, V. H., Linnebank, M., Mooyer, P., Huijmans, J. G. M., Mustonen, A., Simola, K. O. J., Arslan-Kirchner, M., Battini, R., Briones, P., Cardo, E., Mandel, H., Tschiedel, E., Wanders, R. J. A., Koch, H. G. <strong>Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in 5 unrelated families.</strong> J. Inherit. Metab. Dis. 25: 399-410, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12408190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12408190</a>] [<a href="https://doi.org/10.1023/a:1020108002877" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12408190">Kleijer et al. (2002)</a> identified a homozygous 1153C-T transition in the ASL gene, resulting in an arg385-to-cys (R385C) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12408190" 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>
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</div>
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<div>
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<div>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 ARGININOSUCCINIC ACIDURIA</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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ASL, VAL178MET
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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> rs28941473 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28941473;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/rs28941473?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=rs28941473" 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=rs28941473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002503 OR RCV000723377 OR RCV004965257" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002503, RCV000723377, RCV004965257" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002503...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient from a family with variable age of onset of ASL deficiency (<a href="/entry/207900">207900</a>) and considerable residual ASL activity, <a href="#4" class="mim-tip-reference" title="Kleijer, W. J., Garritsen, V. H., Linnebank, M., Mooyer, P., Huijmans, J. G. M., Mustonen, A., Simola, K. O. J., Arslan-Kirchner, M., Battini, R., Briones, P., Cardo, E., Mandel, H., Tschiedel, E., Wanders, R. J. A., Koch, H. G. <strong>Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in 5 unrelated families.</strong> J. Inherit. Metab. Dis. 25: 399-410, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12408190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12408190</a>] [<a href="https://doi.org/10.1023/a:1020108002877" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12408190">Kleijer et al. (2002)</a> identified a homozygous 532G-A transition in the ASL gene, resulting in a val178-to-met (V178M) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12408190" 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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</span>
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<div>
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<div>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 ARGININOSUCCINIC ACIDURIA</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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ASL, ARG379CYS
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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> rs28940287 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28940287;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/rs28940287?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=rs28940287" 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=rs28940287" 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=RCV000002504 OR RCV000185769 OR RCV004754236" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002504, RCV000185769, RCV004754236" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002504...</a>
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<p>In a patient from a family with variable age of onset of ASL deficiency (<a href="/entry/207900">207900</a>) and considerable residual ASL activity, <a href="#4" class="mim-tip-reference" title="Kleijer, W. J., Garritsen, V. H., Linnebank, M., Mooyer, P., Huijmans, J. G. M., Mustonen, A., Simola, K. O. J., Arslan-Kirchner, M., Battini, R., Briones, P., Cardo, E., Mandel, H., Tschiedel, E., Wanders, R. J. A., Koch, H. G. <strong>Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in 5 unrelated families.</strong> J. Inherit. Metab. Dis. 25: 399-410, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12408190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12408190</a>] [<a href="https://doi.org/10.1023/a:1020108002877" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12408190">Kleijer et al. (2002)</a> identified a homozygous 1135C-T transition in the ASL gene, resulting in an arg379-to-cys (R379C) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12408190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 ARGININOSUCCINIC ACIDURIA</strong>
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ASL, GLN354TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs367543005 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs367543005;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=rs367543005" 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=rs367543005" 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=RCV000020415 OR RCV000078007 OR RCV003914857" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020415, RCV000078007, RCV003914857" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020415...</a>
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<p>In 26 of 35 Saudi Arabian patients with argininosuccinic aciduria (<a href="/entry/207900">207900</a>), <a href="#2" class="mim-tip-reference" title="AlTassan, R., Bubshait, D., Imtiaz, F., Rahbeeni, Z. <strong>A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria.</strong> Europ. J. Med. Genet. 61: 307-311, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29326055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29326055</a>] [<a href="https://doi.org/10.1016/j.ejmg.2018.01.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29326055">AlTassan et al. (2018)</a> identified homozygosity for a c.1060C-T transition in the ASL gene, predicted to result in a gln354-to-ter (Q354X) substitution, suggesting that it is a founder mutation in this population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29326055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>See Also:</strong>
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<a href="#Walker1989" class="mim-tip-reference" title="Walker, D. C., McCloskey, D. A., Simard, L. R., McInnes, R. R. <strong>Molecular analysis of human argininosuccinate lyase (ASAL): mutant characterization and alternate splicing of the active site. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A227 only, 1989.">Walker et al. (1989)</a>
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<strong>REFERENCES</strong>
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<a id="Abramson1991" class="mim-anchor"></a>
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Abramson, R. D., Barbosa, P., Kalumuck, K., O'Brien, W. E.
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<strong>Characterization of the human argininosuccinate lyase gene and analysis of exon skipping.</strong>
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Genomics 10: 126-132, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2045097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2045097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2045097" 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/10.1016/0888-7543(91)90492-w" target="_blank">Full Text</a>]
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AlTassan, R., Bubshait, D., Imtiaz, F., Rahbeeni, Z.
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<strong>A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria.</strong>
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Europ. J. Med. Genet. 61: 307-311, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29326055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29326055</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29326055" 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.ejmg.2018.01.007" target="_blank">Full Text</a>]
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<a id="Erez2011" class="mim-anchor"></a>
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Erez, A., Nagamani, S. C. S., Shchelochkov, O. A., Premkumar, M. H., Campeau, P. M., Chen, Y., Garg, H. K., Li, L., Mian, A., Bertin, T. K., Black, J. O., Zeng, H., and 10 others.
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<strong>Requirement of argininosuccinate lyase for systemic nitric oxide production.</strong>
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Nature Med. 17: 1619-1626, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22081021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22081021</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22081021[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=22081021" 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/nm.2544" target="_blank">Full Text</a>]
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Kleijer, W. J., Garritsen, V. H., Linnebank, M., Mooyer, P., Huijmans, J. G. M., Mustonen, A., Simola, K. O. J., Arslan-Kirchner, M., Battini, R., Briones, P., Cardo, E., Mandel, H., Tschiedel, E., Wanders, R. J. A., Koch, H. G.
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<strong>Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in 5 unrelated families.</strong>
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J. Inherit. Metab. Dis. 25: 399-410, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12408190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12408190</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12408190" 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/10.1023/a:1020108002877" target="_blank">Full Text</a>]
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Linnebank, M., Tschiedel, E., Haberle, J., Linnebank, A., Willenbring, H., Kleijer, W. J., Koch, H. G.
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<strong>Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.</strong>
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Hum. Genet. 111: 350-359, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12384776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12384776</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12384776" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Matuo, S., Tatsuno, M., Kobayashi, K., Saheki, T., Miyata, T., Iwanaga, S., Amaya, Y., Mori, M.
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<strong>Isolation of cDNA clones of human argininosuccinate lyase and corrected amino acid sequence.</strong>
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FEBS Lett. 234: 395-399, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3391281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3391281</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3391281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0014-5793(88)80124-8" target="_blank">Full Text</a>]
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<a id="Nagamani2012" class="mim-anchor"></a>
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Nagamani, S. C. S., Campeau, P. M., Shchelochkov, O. A., Premkumar, M. H., Guse, K., Brunetti-Pierri, N., Chen, Y., Sun, Q., Tang, Y., Palmer, D., Reddy, A. K., Li, L., and 9 others.
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<strong>Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22541557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22541557</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22541557[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=22541557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2012.03.018" target="_blank">Full Text</a>]
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Naylor, S. L., Klebe, R. J., Shows, T. B.
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<strong>Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter-q22 region of human chromosome 7 by bioautography.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/282632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">282632</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=282632" 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.75.12.6159" target="_blank">Full Text</a>]
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O'Brien, W. E., McInnes, R., Kalumuck, K., Adcock, M.
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<strong>Cloning and sequence analysis of cDNA for human argininosuccinate lyase.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3463959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3463959</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3463959" 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.83.19.7211" target="_blank">Full Text</a>]
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<p class="mim-text-font">
|
|
Piatigorsky, J., O'Brien, W. E., Norman, B. L., Kalumuck, K., Wistow, G. J., Borras, T., Nickerson, J. M., Wawrousek, E. F.
|
|
<strong>Gene sharing by delta-crystallin and argininosuccinate lyase.</strong>
|
|
Proc. Nat. Acad. Sci. 85: 3479-3483, 1988.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3368457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3368457</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3368457" 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.85.10.3479" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Piatigorsky1991" class="mim-anchor"></a>
|
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<div class="">
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<p class="mim-text-font">
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|
Piatigorsky, J., Wistow, G.
|
|
<strong>The recruitment of crystallins: new functions precede gene duplication.</strong>
|
|
Science 252: 1078-1079, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2031181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2031181</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2031181" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.252.5009.1078" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Todd1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Todd, S., McGill, J. R., McCombs, J. L., Moore, C. M., Weider, I., Naylor, S. L.
|
|
<strong>cDNA sequence, interspecies comparison and gene mapping analysis of argininosuccinate lyase.</strong>
|
|
Genomics 4: 53-59, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2644168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2644168</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2644168" 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/10.1016/0888-7543(89)90314-5" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Trevisson2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Trevisson, E., Salviati, L., Baldoin, M. C., Toldo, I., Casarin, A., Sacconi, S., Cesaro, L., Basso, G., Burlina, A. B.
|
|
<strong>Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.</strong>
|
|
Hum. Mutat. 28: 694-702, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17326097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17326097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17326097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.20498" target="_blank">Full Text</a>]
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Walker1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Walker, D. C., McCloskey, D. A., Simard, L. R., McInnes, R. R.
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<strong>Molecular analysis of human argininosuccinate lyase (ASAL): mutant characterization and alternate splicing of the active site. (Abstract)</strong>
|
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Am. J. Hum. Genet. 45 (suppl.): A227 only, 1989.
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</p>
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</div>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Walker1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Walker, D. C., McCloskey, D. A., Simard, L. R., McInnes, R. R.
|
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<strong>Identification of a mutation frequently involved in interallelic complementation at the human argininosuccinic acid lyase locus. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 47 (suppl.): A169 only, 1990.
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</p>
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<a id="16" class="mim-anchor"></a>
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<a id="Walker1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Walker, D. C., McCloskey, D. A., Simard, L. R., McInnes, R. R.
|
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<strong>Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.</strong>
|
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Proc. Nat. Acad. Sci. 87: 9625-9629, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2263616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2263616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2263616" 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.87.24.9625" target="_blank">Full Text</a>]
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Zhao2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhao, S., Xu, W., Jiang, W., Yu, W., Lin, Y., Zhang, T., Yao, J., Zhou, L., Zeng, Y., Li, H., Li, Y., Shi, J., and 10 others.
|
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<strong>Regulation of cellular metabolism by protein lysine acetylation.</strong>
|
|
Science 327: 1000-1004, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20167786/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20167786</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20167786[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=20167786" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1179689" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 11/22/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 7/25/2012<br>Ada Hamosh - updated : 3/9/2010<br>Cassandra L. Kniffin - updated : 8/20/2007
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 12/3/2003
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 11/22/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/31/2017<br>carol : 06/24/2016<br>alopez : 8/1/2012<br>terry : 7/25/2012<br>alopez : 3/11/2010<br>terry : 3/9/2010<br>wwang : 9/5/2007<br>ckniffin : 8/20/2007<br>terry : 4/21/2005<br>carol : 12/4/2003<br>ckniffin : 12/3/2003
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</span>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 608310
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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ARGININOSUCCINATE LYASE; ASL
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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ARGININOSUCCINASE
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ASL</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 41013004;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 7q11.21
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:66,075,819-66,093,576 </span>
|
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</em>
|
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</strong>
|
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<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
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7q11.21
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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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Argininosuccinic aciduria
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
207900
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>The ASL gene encodes the subunit of argininosuccinate lyase (EC 4.3.2.1) is a urea cycle enzyme that catalyzes the cleavage of argininosuccinate to fumarate and arginine, an essential step in the process of detoxification of ammonia via the urea cycle (O'Brien et al., 1986). </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 antibodies specific for argininosuccinate lyase to screen a human liver cDNA library, O'Brien et al. (1986) isolated a cDNA corresponding to the human ASL gene. The cDNA encodes a deduced protein of 463 amino acids with a predicted molecular mass of 52 kD, and the active enzyme is a homotetramer. The amino acid sequence of the human enzyme shows 56% homology to the yeast enzyme. Matuo et al. (1988) isolated clones of human ASL cDNA and determined the nucleotide sequence. They corrected some minor errors in the sequence reported by O'Brien et al. (1986). </p><p>Abramson et al. (1991) found that the DNA sequences encoded by exon 7 were deleted in approximately 5 to 10% of the mature mRNA in all tissue sources examined, suggesting alternative splicing. Walker et al. (1990) presented evidence for an alternatively spliced ASL transcript in which exon 2 is removed. </p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Abramson et al. (1991) demonstrated that the ASL gene contains 16 exons. The exon structure of the gene is identical to that of the rat and similar to that of the delta-crystallin genes in the chicken. </p><p>Linnebank et al. (2002) completed the structure and sequence of the ASL gene and determined that it has 17 exons. The first, exon zero (0), codes only for the 5-untranslated region. </p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
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<p>Zhao et al. (2010) showed that lysine acetylation is a prevalent modification in enzymes that catalyze intermediate metabolism in the human liver. Virtually every enzyme in glycolysis, gluconeogenesis, the tricarboxylic acid (TCA) cycle, the urea cycle, fatty acid metabolism, and glycogen metabolism was found to be acetylated in human liver tissue. The concentration of metabolic fuels, such as glucose, amino acids, and fatty acids, influenced the acetylation status of metabolic enzymes. Acetylation activated enoyl-coenzyme A hydratase/3-hydroxyacyl-coenzyme A dehydrogenase (607037) in fatty acid oxidation and malate dehydrogenase (see 154200) in the TCA cycle, inhibited argininosuccinate lyase in the urea cycle, and destabilized phosphoenolpyruvate carboxykinase (261680) in gluconeogenesis. Zhao et al. (2010) concluded that acetylation plays a major role in metabolic regulation. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Naylor et al. (1978) assigned the gene for ASL to chromosome 7. By analysis of genomic DNA from hamster-human cell hybrids, O'Brien et al. (1986) assigned the ASL gene to chromosome 7. By in situ hybridization, Todd et al. (1989) mapped ASL to 7cen-q11.2. </p><p><strong><em>Pseudogene</em></strong></p><p>
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|
O'Brien et al. (1986) found that the 5-prime end of the ASL cDNA was also hybridized to a site on chromosome 22, which the authors assumed to be a pseudogene. Todd et al. (1989) also detected a sequence on chromosome 22. </p><p>Linnebank et al. (2002) identified a complete ASL homolog on chromosome 22q11.2 and stated that this so-called pseudogene is a regular gene with a promoter region, a poly-A signal, and 11 exons containing a typical initial exon and a terminal exon. The predicted coding sequence of the pseudogene shared more than 0.4 kb high homology with ASL cDNA. A GenBank search with a predicted cDNA revealed that the pseudogene might encode immunoglobulin-lambda-like mRNA (IGLL1; 146770). </p><p>Trevisson et al. (2007) identified a second ASL pseudogene located on chromosome 7 about 3 Mb upstream of the ASL gene, close to the centromere. There was no evidence of expression of this second pseudogene. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In fibroblasts from a patient with ASL deficiency (207900) whose parents were consanguineous, Walker et al. (1990) identified a homozygous mutation in the ASL gene (608310.0001). </p><p>In 27 unrelated patients with ASL deficiency, Linnebank et al. (2002) identified 23 different mutations, 19 novel, in the ASL gene. Fifteen of the 54 alleles had an IVS5+1G-A splice site mutation (608310.0003). </p><p>In 5 patients with a biochemical variant of ASL deficiency in which there was residual enzyme activity and mild clinical symptoms, Kleijer et al. (2002) identified several mutations in the ASL gene. R385C (608310.0004), V178M (608310.0005), and R379C (608310.0006) were detected in homozygous states, whereas 1 patient was compound heterozygous for 2 known mutations, including Q286R (608310.0002). Prenatal diagnosis was successfully performed in 3 of the families. </p><p>Trevisson et al. (2007) identified 16 different mutations in the ASL gene, including 14 novel mutations, in 12 Italian patients from 10 families with ASL deficiency. All patients tested, except 1, had less than 5% residual enzyme activity. Mutations were scattered throughout the gene, but there were no genotype/phenotype correlations. </p><p>AlTassan et al. (2018) identified homozygous mutations in the ASL gene in 35 Arab patients with ASL deficiency, including 26 patients with the same nonsense mutation (Q354X; 608310.0007), 7 with an R186W missense mutation, and 2 with different splice site mutations. All of the patients had elevated plasma and urine argininosuccinic acid and plasma citrulline. </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>Evolution</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>Piatigorsky et al. (1988) demonstrated an extraordinary similarity between the structural protein delta-crystallin of the lens of the duck and the enzyme argininosuccinate lyase. Delta-crystallin is the dominant crystallin in the lenses of birds and reptiles, but is absent from lenses of mammals. It appears that birds, being uricotelic, have relatively little use for the metabolic enzyme but use the protein as a structural element by producing very large amounts. Southern blot hybridization experiments with chicken delta-crystallin cDNA and human ASL cDNA, coupled with enzymatic tests, provided strong evidence that the crystallin and the enzyme share genes in an unusual evolutionary strategy. 'Gene sharing' was the designation given this phenomenon, i.e., when 2 distinct protein phenotypes are produced by the same transcriptional unit. Once an enzyme has been recruited to serve as a structural protein in lens, in addition to its conserved role in metabolism, it is subject to at least 2 independent sets of evolutionary pressure. This may lead to sequence modifications that enhance its function as a crystallin, or gene duplication may take place with subsequent partial separation of function (Piatigorsky and Wistow, 1991). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Erez et al. (2011) created a hypomorphic mouse model of ASL deficiency and showed that this mouse has a distinct phenotype of multiorgan dysfunction and nitric oxide deficiency. Administration of nitrite, which can be converted into nitric oxide in vivo, rescued the manifestations of nitric oxide deficiency in hypomorphic Asl mice, and a nitric oxide synthase-independent nitric oxide donor restored nitric oxide-dependent vascular reactivity in humans with ASL deficiency. Mechanistic studies showed that ASL has a structural function in addition to the catalytic activity, by which it contributes to the formation of a multiprotein complex required for nitric oxide production. Erez et al. (2011) concluded their data demonstrated an unappreciated role for ASL in nitric oxide synthase function and nitric oxide homeostasis. </p><p>Nagamani et al. (2012) performed liver-directed gene therapy in a mouse model of argininosuccinic aciduria (ASA) to distinguish the relative contributions of the hepatic urea cycle defect from those of the nitric oxide deficiency in the ASA phenotype. Whereas the gene therapy corrected the ureagenesis defect, the systemic hypertension in mice could be corrected by treatment with an exogenous NO source. </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>7 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">
|
|
<strong>.0001 ARGININOSUCCINIC ACIDURIA</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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ASL, ARG95CYS
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<br />
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SNP: rs28940585,
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gnomAD: rs28940585,
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ClinVar: RCV000002499
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In fibroblasts from a patient with late-onset ASL deficiency (207900) who was the product of a consanguineous mating, Walker et al. (1990) identified a homozygous 283C-T change in exon 3 of the ASL gene, resulting in an arg95-to-cys (R95C) substitution within a 13-residue stretch that is identical in yeast and human ASL. Enzyme activity of the mutant protein was about 1%. </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>.0002 ARGININOSUCCINIC ACIDURIA</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
ASL, GLN286ARG
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|
<br />
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|
|
SNP: rs28941472,
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|
|
|
gnomAD: rs28941472,
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|
|
|
ClinVar: RCV000002500, RCV000078017
|
|
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|
|
</span>
|
|
</div>
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<div>
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|
<span class="mim-text-font">
|
|
<p>In a cell line from a patient with neonatal-onset of argininosuccinic aciduria (207900) whose parents were consanguineous, Walker et al. (1990) identified an 857A-G transition in exon 11 of the ASL gene, resulting in a gln286-to-arg (Q286R) substitution. The mutation occurred in a region of 18 amino acids identical in yeast and human ASL, and in a region of 10 amino acids highly conserved in the family of class II fumarases. The mutant enzyme retained less than 3% of residual ASL activity.</p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 ARGININOSUCCINIC ACIDURIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASL, IVS5DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs142637046,
|
|
|
|
|
|
gnomAD: rs142637046,
|
|
|
|
|
|
ClinVar: RCV000078011, RCV000409952
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Linnebank et al. (2002) found that 15 of 54 ASL deficiency (207900)-related alleles had an IVS5+1G-A splice site mutation in the ASL gene that resulted in the deletion of 21 amino acids. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 ARGININOSUCCINIC ACIDURIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASL, ARG385CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28940286, rs28940287,
|
|
|
|
|
|
gnomAD: rs28940286, rs28940287,
|
|
|
|
|
|
ClinVar: RCV000002502
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 patients from a family with variable age of onset of ASL deficiency (207900) and considerable residual ASL activity, Kleijer et al. (2002) identified a homozygous 1153C-T transition in the ASL gene, resulting in an arg385-to-cys (R385C) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 ARGININOSUCCINIC ACIDURIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASL, VAL178MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28941473,
|
|
|
|
|
|
gnomAD: rs28941473,
|
|
|
|
|
|
ClinVar: RCV000002503, RCV000723377, RCV004965257
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient from a family with variable age of onset of ASL deficiency (207900) and considerable residual ASL activity, Kleijer et al. (2002) identified a homozygous 532G-A transition in the ASL gene, resulting in a val178-to-met (V178M) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 ARGININOSUCCINIC ACIDURIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASL, ARG379CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28940287,
|
|
|
|
|
|
gnomAD: rs28940287,
|
|
|
|
|
|
ClinVar: RCV000002504, RCV000185769, RCV004754236
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient from a family with variable age of onset of ASL deficiency (207900) and considerable residual ASL activity, Kleijer et al. (2002) identified a homozygous 1135C-T transition in the ASL gene, resulting in an arg379-to-cys (R379C) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 ARGININOSUCCINIC ACIDURIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ASL, GLN354TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs367543005,
|
|
|
|
|
|
|
|
ClinVar: RCV000020415, RCV000078007, RCV003914857
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 26 of 35 Saudi Arabian patients with argininosuccinic aciduria (207900), AlTassan et al. (2018) identified homozygosity for a c.1060C-T transition in the ASL gene, predicted to result in a gln354-to-ter (Q354X) substitution, suggesting that it is a founder mutation in this population. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Walker et al. (1989)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Abramson, R. D., Barbosa, P., Kalumuck, K., O'Brien, W. E.
|
|
<strong>Characterization of the human argininosuccinate lyase gene and analysis of exon skipping.</strong>
|
|
Genomics 10: 126-132, 1991.
|
|
|
|
|
|
[PubMed: 2045097]
|
|
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|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(91)90492-w]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
AlTassan, R., Bubshait, D., Imtiaz, F., Rahbeeni, Z.
|
|
<strong>A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria.</strong>
|
|
Europ. J. Med. Genet. 61: 307-311, 2018.
|
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|
[PubMed: 29326055]
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[Full Text: https://doi.org/10.1016/j.ejmg.2018.01.007]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Erez, A., Nagamani, S. C. S., Shchelochkov, O. A., Premkumar, M. H., Campeau, P. M., Chen, Y., Garg, H. K., Li, L., Mian, A., Bertin, T. K., Black, J. O., Zeng, H., and 10 others.
|
|
<strong>Requirement of argininosuccinate lyase for systemic nitric oxide production.</strong>
|
|
Nature Med. 17: 1619-1626, 2011.
|
|
|
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|
|
[PubMed: 22081021]
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|
|
[Full Text: https://doi.org/10.1038/nm.2544]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Kleijer, W. J., Garritsen, V. H., Linnebank, M., Mooyer, P., Huijmans, J. G. M., Mustonen, A., Simola, K. O. J., Arslan-Kirchner, M., Battini, R., Briones, P., Cardo, E., Mandel, H., Tschiedel, E., Wanders, R. J. A., Koch, H. G.
|
|
<strong>Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in 5 unrelated families.</strong>
|
|
J. Inherit. Metab. Dis. 25: 399-410, 2002.
|
|
|
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|
|
[PubMed: 12408190]
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|
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[Full Text: https://doi.org/10.1023/a:1020108002877]
|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Linnebank, M., Tschiedel, E., Haberle, J., Linnebank, A., Willenbring, H., Kleijer, W. J., Koch, H. G.
|
|
<strong>Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.</strong>
|
|
Hum. Genet. 111: 350-359, 2002.
|
|
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|
|
[PubMed: 12384776]
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