2839 lines
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Entry
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- *604565 - ALG5 DOLICHYL-PHOSPHATE BETA-GLUCOSYLTRANSFERASE; ALG5
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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">*604565</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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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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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/604565">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div class="panel-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=ENSG00000120697;t=ENST00000239891" 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=29880" 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=604565" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000120697;t=ENST00000239891" 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_001142364,NM_013338,XM_047430283,XR_007063678" 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_013338" 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=604565" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=05193&isoform_id=05193_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/ALG5" 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/5281121,6841520,7019323,9963765,15214794,27734217,119628982,119628983,194386678,194386738,215276969,2217294188,2462536985" 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/Q9Y673" 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=29880" 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=ENSG00000120697;t=ENST00000239891" 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=ALG5" 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=ALG5" 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+29880" 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/ALG5" 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:29880" 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/29880" 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=chr13&hgg_gene=ENST00000239891.4&hgg_start=36949738&hgg_end=36999367&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=604565[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=604565[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000120697" 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=ALG5" 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=ALG5" 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=ALG5" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ALG5&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/PA134977026" 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:20266" 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/FBgn0261020.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:1913498" 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/ALG5#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:1913498" 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/29880/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=29880" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00019276;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-6586" 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:29880" 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=ALG5&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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604565
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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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ALG5 DOLICHYL-PHOSPHATE BETA-GLUCOSYLTRANSFERASE; ALG5
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
ALG5, S. CEREVISIAE, HOMOLOG OF<br />
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DOLICHYL PHOSPHATE GLUCOSYLTRANSFERASE
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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=ALG5" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ALG5</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/13/101?start=-3&limit=10&highlight=101">13q13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr13:36949738-36999367&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'})">13:36,949,738-36,999,367</a> </span>
|
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</em>
|
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/13/101?start=-3&limit=10&highlight=101">
|
|
13q13.3
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Polycystic kidney disease 7
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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/620056"> 620056 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/604565" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/604565" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
|
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The ALG5 gene encodes dolichyl-phosphate beta-glycosyltransferase (<a href="https://enzyme.expasy.org/EC/2.4.1.117" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.4.1.117</a>), a transmembrane-bound enzyme of the endoplasmic reticulum (ER) dolichol cycle that is involved in N-glycosylation as a posttranslational modification of many glycoproteins (summary by <a href="#4" class="mim-tip-reference" title="Lemoine, H., Raud, L., Foulquier, F., Sayer, J. A., Lambert, B., Olinger, E., Lefevre, S., Knebelmann, B., Harris, P. C., Trouve, P., Despres, A., Duneau, G., and 14 others. <strong>Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.</strong> Am. J. Hum. Genet. 109: 1484-1499, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35896117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35896117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35896117[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.2022.06.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35896117">Lemoine et al., 2022</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35896117" 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>By searching EST databases and using low-stringency PCR amplification to screen a human T-lymphocyte cDNA library, <a href="#3" class="mim-tip-reference" title="Imbach, T., Burda, P., Kuhnert, P., Wevers, R. A., Aebi, M., Berger, E. G., Hennet, T. <strong>A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.</strong> Proc. Nat. Acad. Sci. 96: 6982-6987, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10359825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10359825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10359825[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.96.12.6982" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10359825">Imbach et al. (1999)</a> obtained a complete cDNA encoding the ortholog of S. cerevisiae ALG5. The human ALG5 protein contains 242 amino acids and is 58% similar to yeast ALG5. Northern blot analysis revealed expression of a 1.3-kb ALG5 transcript in pancreas, placenta, liver, heart, brain, kidney, skeletal muscle, and lung. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10359825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 3/24/2014."None>Gross (2014)</a> mapped the ALG5 gene to chromosome 13q13.3 based on an alignment of the ALG5 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AF161498" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AF161498</a>) with the genomic sequence (GRCh37).</p>
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<p>In 19 patients from 5 unrelated families with polycystic kidney disease-7 (PKD7; <a href="/entry/620056">620056</a>), <a href="#4" class="mim-tip-reference" title="Lemoine, H., Raud, L., Foulquier, F., Sayer, J. A., Lambert, B., Olinger, E., Lefevre, S., Knebelmann, B., Harris, P. C., Trouve, P., Despres, A., Duneau, G., and 14 others. <strong>Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.</strong> Am. J. Hum. Genet. 109: 1484-1499, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35896117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35896117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35896117[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.2022.06.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35896117">Lemoine et al. (2022)</a> identified heterozygous mutations in the ALG5 gene (see, e.g., <a href="#0001">604565.0001</a>-<a href="#0004">604565.0004</a>). There was 1 frameshift, 1 nonsense, 2 missense, and 1 splice site mutation. The mutation in the first family was found by whole-exome sequencing and confirmed by Sanger sequencing. The mutations in families 2 and 3 were identified by targeted massively parallel sequencing of 1,213 individuals with kidney disease. The mutations in family 4 and in a singleton (family 5) were found by whole-genome sequencing of 3,520 probands with various renal diseases. The mutations segregated with the disorder in families 1, 2, 3, and 4. In vitro studies of CRISPR/Cas9-mediated biallelic and monoallelic frameshift mutations in the ALG5 gene expressed in renal cortical tubular epithelial (RCTE) cells showed abnormal accumulation of Man9GlcNAc2 lipid-linked oligosaccharide (LLO) precursors and their transfer onto proteins in human kidney cells. Further studies revealed that the lack of N-glycosylation resulted in abnormal maturation of the PKD1 (<a href="/entry/601313">601313</a>) protein that could be rescued by wildtype ALG5, but not by either of the missense variants. Lack of ALG5 also caused intracellular mislocalization of both PKD1 and PKD2 (<a href="/entry/173910">173910</a>), and evidence suggested that there was activation of the unfolded protein response (UPR). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35896117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="mim-changed mim-change"><p>In 2 distantly related Irish families (F350 and F200) with a late-onset autosomal dominant polycystic kidney disease-like phenotype and tubulointerstitial fibrosis, <a href="#1" class="mim-tip-reference" title="Elhassan, E. A. E., Kmochova, T., Benson, K. A., Fennelly, N. K., Baresova, V., Kidd, K., Doyle, B., Dorman, A., Morrin, M. M., Kyne, N. C., Vyletal, P., Hartmannova, H., and 23 others. <strong>A novel monoallelic ALG5 variant causing late-onset ADPKD and tubulointerstitial fibrosis.</strong> Kidney Int. Rep. 9: 2209-2226, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39081747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39081747</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=39081747[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.ekir.2024.04.031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="39081747">Elhassan et al. (2024)</a> identified 23 individuals with a heterozygous R79W mutation in the ALG5 gene (<a href="#0005">604565.0005</a>). Among these 23 individuals, 18 were clinically affected with a slowly progressive chronic kidney disease. The authors identified abnormal ALG5 distribution in the Golgi apparatus of renal tubular cells. Abnormal accumulation of uromodulin was noted in the endoplasmic reticulum, and decreased plasma and urinary uromodulin levels were also seen in affected persons, suggesting abnormal maturation and trafficking of uromodulin, resulting in structural and functional changes in the kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=39081747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=604565[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p>In 9 patients from a 3-generation family (PK20267, family 1) with polycystic kidney disease-7 (PKD7; <a href="/entry/620056">620056</a>), <a href="#4" class="mim-tip-reference" title="Lemoine, H., Raud, L., Foulquier, F., Sayer, J. A., Lambert, B., Olinger, E., Lefevre, S., Knebelmann, B., Harris, P. C., Trouve, P., Despres, A., Duneau, G., and 14 others. <strong>Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.</strong> Am. J. Hum. Genet. 109: 1484-1499, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35896117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35896117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35896117[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.2022.06.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35896117">Lemoine et al. (2022)</a> identified a heterozygous 2-bp deletion (c.703_704delCA, NM_013338.5) in the ALG5 gene, predicted to result in a frameshift and premature termination (Gln235ValfsTer21). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Data from the gnomAD database indicate that ALG5 is depleted in predicted loss-of-function variants. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35896117" 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 5 affected members of a multigenerational family (PK13924, family 2) with polycystic kidney disease-7 (PKD7; <a href="/entry/620056">620056</a>), <a href="#4" class="mim-tip-reference" title="Lemoine, H., Raud, L., Foulquier, F., Sayer, J. A., Lambert, B., Olinger, E., Lefevre, S., Knebelmann, B., Harris, P. C., Trouve, P., Despres, A., Duneau, G., and 14 others. <strong>Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.</strong> Am. J. Hum. Genet. 109: 1484-1499, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35896117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35896117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35896117[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.2022.06.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35896117">Lemoine et al. (2022)</a> identified a heterozygous c.773G-A transition (c.773G-A, NM_013338.5) in exon 8 of the ALG5 gene, resulting in a trp258-to-ter (W258X) substitution. The mutation, which was found by targeted massively parallel sequencing, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35896117" 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 2 sibs (PK14384, family 3) with polycystic kidney disease-7 (PKD7; <a href="/entry/620056">620056</a>), <a href="#4" class="mim-tip-reference" title="Lemoine, H., Raud, L., Foulquier, F., Sayer, J. A., Lambert, B., Olinger, E., Lefevre, S., Knebelmann, B., Harris, P. C., Trouve, P., Despres, A., Duneau, G., and 14 others. <strong>Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.</strong> Am. J. Hum. Genet. 109: 1484-1499, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35896117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35896117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35896117[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.2022.06.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35896117">Lemoine et al. (2022)</a> identified a heterozygous c.635G-A transition (c.635G-A, NM_013338.5) in the ALG5 gene, resulting in an arg212-to-his (R212H) substitution at a conserved residue. The mutation, which was found by targeted massively parallel sequencing, segregated with the disorder in the family and was not present in the gnomAD database. The patients' deceased father died of end-stage kidney disease at age 76; DNA was not available. In vitro functional expression studies showed that the R212H variant was unable to rescue defective glycosylation and maturation of PKD1 (<a href="/entry/601313">601313</a>), whereas wildtype ALG5 was able to rescue the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35896117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 POLYCYSTIC KIDNEY DISEASE 7</strong>
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ALG5, ARG208HIS
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002287542" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002287542" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002287542</a>
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<p>In a mother and daughter (family 4) with polycystic kidney disease-7 (PKD7; <a href="/entry/620056">620056</a>), <a href="#4" class="mim-tip-reference" title="Lemoine, H., Raud, L., Foulquier, F., Sayer, J. A., Lambert, B., Olinger, E., Lefevre, S., Knebelmann, B., Harris, P. C., Trouve, P., Despres, A., Duneau, G., and 14 others. <strong>Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.</strong> Am. J. Hum. Genet. 109: 1484-1499, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35896117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35896117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35896117[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.2022.06.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35896117">Lemoine et al. (2022)</a> identified a heterozygous c.623G-A transition (c.623G-A, NM_013338.5) in the ALG5 gene, resulting in an arg208-to-his (R208H) substitution at a conserved residue. The mutation was found by whole-genome sequencing and confirmed by Sanger sequencing; it was present once in the gnomAD database (1 of 137,447 individuals). The deceased father of the mother died of end-stage kidney disease at age 85; DNA was not available. In vitro functional expression studies showed that the R208H variant was unable to rescue defective glycosylation and maturation of PKD1 (<a href="/entry/601313">601313</a>), whereas wildtype ALG5 was able to rescue the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35896117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong><div class="mim-changed mim-change">.0005 POLYCYSTIC KIDNEY DISEASE 7</div></strong>
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<div class="mim-changed mim-change">ALG5, ARG79TRP</div>
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<div class="mim-changed mim-change"><p>In 2 distantly related Irish families (F350 and F200) with a late-onset autosomal dominant polycystic kidney disease-like phenotype and tubulointerstitial fibrosis (PKD7; <a href="/entry/620056">620056</a>), <a href="#1" class="mim-tip-reference" title="Elhassan, E. A. E., Kmochova, T., Benson, K. A., Fennelly, N. K., Baresova, V., Kidd, K., Doyle, B., Dorman, A., Morrin, M. M., Kyne, N. C., Vyletal, P., Hartmannova, H., and 23 others. <strong>A novel monoallelic ALG5 variant causing late-onset ADPKD and tubulointerstitial fibrosis.</strong> Kidney Int. Rep. 9: 2209-2226, 2024.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39081747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39081747</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=39081747[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.ekir.2024.04.031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="39081747">Elhassan et al. (2024)</a> identified 23 individuals with a heterozygous c.235C-T transition (c.235C-T, NM_013338.5) in the ALG5 gene, resulting in an arg79-to-trp (R79W) substitution. Among these 23 individuals, 18 were clinically affected with a slowly progressive chronic kidney disease. The authors identified abnormal ALG5 distribution in the Golgi apparatus of renal tubular cells. Abnormal accumulation of uromodulin was noted in the endoplasmic reticulum, and decreased plasma and urinary uromodulin levels were also seen in affected persons, suggesting abnormal maturation and trafficking of uromodulin, resulting in structural and functional changes in the kidney. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=39081747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
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<strong>REFERENCES</strong>
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<a id="Elhassan2024" class="mim-anchor"></a>
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Elhassan, E. A. E., Kmochova, T., Benson, K. A., Fennelly, N. K., Baresova, V., Kidd, K., Doyle, B., Dorman, A., Morrin, M. M., Kyne, N. C., Vyletal, P., Hartmannova, H., and 23 others.
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<strong>A novel monoallelic ALG5 variant causing late-onset ADPKD and tubulointerstitial fibrosis.</strong>
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Kidney Int. Rep. 9: 2209-2226, 2024.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39081747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39081747</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=39081747[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=39081747" 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.ekir.2024.04.031" target="_blank">Full Text</a>]
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 3/24/2014.
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Imbach, T., Burda, P., Kuhnert, P., Wevers, R. A., Aebi, M., Berger, E. G., Hennet, T.
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<strong>A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.</strong>
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Proc. Nat. Acad. Sci. 96: 6982-6987, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10359825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10359825</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10359825[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=10359825" 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.96.12.6982" target="_blank">Full Text</a>]
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Lemoine, H., Raud, L., Foulquier, F., Sayer, J. A., Lambert, B., Olinger, E., Lefevre, S., Knebelmann, B., Harris, P. C., Trouve, P., Despres, A., Duneau, G., and 14 others.
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<strong>Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.</strong>
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Am. J. Hum. Genet. 109: 1484-1499, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35896117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35896117</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35896117[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=35896117" 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.2022.06.013" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 02/24/2025
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Cassandra L. Kniffin - updated : 09/28/2022<br>Matthew B. Gross - updated : 03/24/2014
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Paul J. Converse : 2/18/2000
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carol : 02/24/2025<br>alopez : 10/04/2022<br>ckniffin : 09/28/2022<br>carol : 01/03/2020<br>mgross : 03/24/2014<br>carol : 3/23/2014<br>carol : 6/26/2007<br>carol : 2/18/2000
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<strong>*</strong> 604565
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ALG5 DOLICHYL-PHOSPHATE BETA-GLUCOSYLTRANSFERASE; ALG5
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Cytogenetic location: 13q13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 13:36,949,738-36,999,367 </span>
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<span class="small">(from NCBI)</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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13q13.3
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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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Polycystic kidney disease 7
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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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620056
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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 dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The ALG5 gene encodes dolichyl-phosphate beta-glycosyltransferase (EC 2.4.1.117), a transmembrane-bound enzyme of the endoplasmic reticulum (ER) dolichol cycle that is involved in N-glycosylation as a posttranslational modification of many glycoproteins (summary by Lemoine et al., 2022). </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>By searching EST databases and using low-stringency PCR amplification to screen a human T-lymphocyte cDNA library, Imbach et al. (1999) obtained a complete cDNA encoding the ortholog of S. cerevisiae ALG5. The human ALG5 protein contains 242 amino acids and is 58% similar to yeast ALG5. Northern blot analysis revealed expression of a 1.3-kb ALG5 transcript in pancreas, placenta, liver, heart, brain, kidney, skeletal muscle, and lung. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>Gross (2014) mapped the ALG5 gene to chromosome 13q13.3 based on an alignment of the ALG5 sequence (GenBank AF161498) with the genomic sequence (GRCh37).</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">
|
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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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|
|
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<span class="mim-text-font">
|
|
<p>In 19 patients from 5 unrelated families with polycystic kidney disease-7 (PKD7; 620056), Lemoine et al. (2022) identified heterozygous mutations in the ALG5 gene (see, e.g., 604565.0001-604565.0004). There was 1 frameshift, 1 nonsense, 2 missense, and 1 splice site mutation. The mutation in the first family was found by whole-exome sequencing and confirmed by Sanger sequencing. The mutations in families 2 and 3 were identified by targeted massively parallel sequencing of 1,213 individuals with kidney disease. The mutations in family 4 and in a singleton (family 5) were found by whole-genome sequencing of 3,520 probands with various renal diseases. The mutations segregated with the disorder in families 1, 2, 3, and 4. In vitro studies of CRISPR/Cas9-mediated biallelic and monoallelic frameshift mutations in the ALG5 gene expressed in renal cortical tubular epithelial (RCTE) cells showed abnormal accumulation of Man9GlcNAc2 lipid-linked oligosaccharide (LLO) precursors and their transfer onto proteins in human kidney cells. Further studies revealed that the lack of N-glycosylation resulted in abnormal maturation of the PKD1 (601313) protein that could be rescued by wildtype ALG5, but not by either of the missense variants. Lack of ALG5 also caused intracellular mislocalization of both PKD1 and PKD2 (173910), and evidence suggested that there was activation of the unfolded protein response (UPR). </p><p>In 2 distantly related Irish families (F350 and F200) with a late-onset autosomal dominant polycystic kidney disease-like phenotype and tubulointerstitial fibrosis, Elhassan et al. (2024) identified 23 individuals with a heterozygous R79W mutation in the ALG5 gene (604565.0005). Among these 23 individuals, 18 were clinically affected with a slowly progressive chronic kidney disease. The authors identified abnormal ALG5 distribution in the Golgi apparatus of renal tubular cells. Abnormal accumulation of uromodulin was noted in the endoplasmic reticulum, and decreased plasma and urinary uromodulin levels were also seen in affected persons, suggesting abnormal maturation and trafficking of uromodulin, resulting in structural and functional changes in the kidney. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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|
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|
|
|
</div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>5 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 POLYCYSTIC KIDNEY DISEASE 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ALG5, 2-BP DEL, 703CA
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|
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|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV002287539
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 9 patients from a 3-generation family (PK20267, family 1) with polycystic kidney disease-7 (PKD7; 620056), Lemoine et al. (2022) identified a heterozygous 2-bp deletion (c.703_704delCA, NM_013338.5) in the ALG5 gene, predicted to result in a frameshift and premature termination (Gln235ValfsTer21). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Data from the gnomAD database indicate that ALG5 is depleted in predicted loss-of-function variants. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 POLYCYSTIC KIDNEY DISEASE 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ALG5, TRP258TER
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV002287540
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 affected members of a multigenerational family (PK13924, family 2) with polycystic kidney disease-7 (PKD7; 620056), Lemoine et al. (2022) identified a heterozygous c.773G-A transition (c.773G-A, NM_013338.5) in exon 8 of the ALG5 gene, resulting in a trp258-to-ter (W258X) substitution. The mutation, which was found by targeted massively parallel sequencing, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 POLYCYSTIC KIDNEY DISEASE 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ALG5, ARG212HIS
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV002287541
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs (PK14384, family 3) with polycystic kidney disease-7 (PKD7; 620056), Lemoine et al. (2022) identified a heterozygous c.635G-A transition (c.635G-A, NM_013338.5) in the ALG5 gene, resulting in an arg212-to-his (R212H) substitution at a conserved residue. The mutation, which was found by targeted massively parallel sequencing, segregated with the disorder in the family and was not present in the gnomAD database. The patients' deceased father died of end-stage kidney disease at age 76; DNA was not available. In vitro functional expression studies showed that the R212H variant was unable to rescue defective glycosylation and maturation of PKD1 (601313), whereas wildtype ALG5 was able to rescue the phenotype. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 POLYCYSTIC KIDNEY DISEASE 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ALG5, ARG208HIS
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV002287542
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a mother and daughter (family 4) with polycystic kidney disease-7 (PKD7; 620056), Lemoine et al. (2022) identified a heterozygous c.623G-A transition (c.623G-A, NM_013338.5) in the ALG5 gene, resulting in an arg208-to-his (R208H) substitution at a conserved residue. The mutation was found by whole-genome sequencing and confirmed by Sanger sequencing; it was present once in the gnomAD database (1 of 137,447 individuals). The deceased father of the mother died of end-stage kidney disease at age 85; DNA was not available. In vitro functional expression studies showed that the R208H variant was unable to rescue defective glycosylation and maturation of PKD1 (601313), whereas wildtype ALG5 was able to rescue the phenotype. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 POLYCYSTIC KIDNEY DISEASE 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ALG5, ARG79TRP
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<div class="mim-changed mim-change"><p>In 2 distantly related Irish families (F350 and F200) with a late-onset autosomal dominant polycystic kidney disease-like phenotype and tubulointerstitial fibrosis (PKD7; 620056), Elhassan et al. (2024) identified 23 individuals with a heterozygous c.235C-T transition (c.235C-T, NM_013338.5) in the ALG5 gene, resulting in an arg79-to-trp (R79W) substitution. Among these 23 individuals, 18 were clinically affected with a slowly progressive chronic kidney disease. The authors identified abnormal ALG5 distribution in the Golgi apparatus of renal tubular cells. Abnormal accumulation of uromodulin was noted in the endoplasmic reticulum, and decreased plasma and urinary uromodulin levels were also seen in affected persons, suggesting abnormal maturation and trafficking of uromodulin, resulting in structural and functional changes in the kidney. </p></div>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Elhassan, E. A. E., Kmochova, T., Benson, K. A., Fennelly, N. K., Baresova, V., Kidd, K., Doyle, B., Dorman, A., Morrin, M. M., Kyne, N. C., Vyletal, P., Hartmannova, H., and 23 others.
|
|
<strong>A novel monoallelic ALG5 variant causing late-onset ADPKD and tubulointerstitial fibrosis.</strong>
|
|
Kidney Int. Rep. 9: 2209-2226, 2024.
|
|
|
|
|
|
[PubMed: 39081747]
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|
|
[Full Text: https://doi.org/10.1016/j.ekir.2024.04.031]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gross, M. B.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 3/24/2014.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Imbach, T., Burda, P., Kuhnert, P., Wevers, R. A., Aebi, M., Berger, E. G., Hennet, T.
|
|
<strong>A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.</strong>
|
|
Proc. Nat. Acad. Sci. 96: 6982-6987, 1999.
|
|
|
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|
|
[PubMed: 10359825]
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|
|
[Full Text: https://doi.org/10.1073/pnas.96.12.6982]
|
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|
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lemoine, H., Raud, L., Foulquier, F., Sayer, J. A., Lambert, B., Olinger, E., Lefevre, S., Knebelmann, B., Harris, P. C., Trouve, P., Despres, A., Duneau, G., and 14 others.
|
|
<strong>Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.</strong>
|
|
Am. J. Hum. Genet. 109: 1484-1499, 2022.
|
|
|
|
|
|
[PubMed: 35896117]
|
|
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|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2022.06.013]
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</p>
|
|
</li>
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</ol>
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<div>
|
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Sonja A. Rasmussen - updated : 02/24/2025<br>Cassandra L. Kniffin - updated : 09/28/2022<br>Matthew B. Gross - updated : 03/24/2014
|
|
</span>
|
|
</div>
|
|
</div>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Paul J. Converse : 2/18/2000
|
|
</span>
|
|
</div>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Edit History:
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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carol : 02/25/2025<br>carol : 02/24/2025<br>alopez : 10/04/2022<br>ckniffin : 09/28/2022<br>carol : 01/03/2020<br>mgross : 03/24/2014<br>carol : 3/23/2014<br>carol : 6/26/2007<br>carol : 2/18/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<div id="mimFooter">
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