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Entry
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- *610661 - N-GLYCANASE 1; NGLY1
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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">*610661</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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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>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/610661">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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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000151092;t=ENST00000280700" 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=55768" 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=610661" 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 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=ENSG00000151092;t=ENST00000280700" 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_001145293,NM_001145294,NM_001145295,NM_018297,XM_005265316,XM_005265317,XM_011533944,XM_017006839,XM_047448556,XM_047448557,XM_047448558,XM_047448560,XM_047448561" 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_018297" 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=610661" 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=10118&isoform_id=10118_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/NGLY1" 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/7023401,12654285,13938211,20806541,21314690,33878911,62088678,74732105,119584767,119584768,119584769,119584770,194382112,223941798,223941803,223941808,530372840,530372842,767923841,1034634485,2217345010,2217345012,2217345014,2217345016,2217345018,2462591276,2462591278,2462591280,2462591282,2462591284,2462591286,2462591289,2462591291,2462591293" 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/Q96IV0" 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=55768" 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=ENSG00000151092;t=ENST00000280700" 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=NGLY1" 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=NGLY1" 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+55768" 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/NGLY1" 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:55768" 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/55768" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr3&hgg_gene=ENST00000280700.10&hgg_start=25718944&hgg_end=25790039&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17646" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:17646" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/ngly1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=610661[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=610661[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/NGLY1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000151092" 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.gwascentral.org/search?q=NGLY1" 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=NGLY1" 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=NGLY1&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/PA38462" 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:17646" 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/FBgn0033050.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:1913276" 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/NGLY1#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:1913276" 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/55768/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=55768" 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=WBGene00010160;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-050522-535" 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:55768" 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=NGLY1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 768846004<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
|
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610661
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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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N-GLYCANASE 1; NGLY1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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PEPTIDE-N-GLYCANASE 1, S. CEREVISIAE, HOMOLOG OF; PNG1
|
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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">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=NGLY1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">NGLY1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
|
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<em>
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Cytogenetic location: <a href="/geneMap/3/126?start=-3&limit=10&highlight=126">3p24.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:25718944-25790039&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">3:25,718,944-25,790,039</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>
|
|
<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>
|
|
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>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/126?start=-3&limit=10&highlight=126">
|
|
3p24.2
|
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</a>
|
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</span>
|
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</td>
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Congenital disorder of deglycosylation 1
|
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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/615273"> 615273 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/610661" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/610661" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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<p>The NGLY1 gene encodes N-glycanase (<a href="https://enzyme.expasy.org/EC/3.5.1.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.5.1.52</a>), a highly conserved enzyme that catalyzes deglycosylation of misfolded N-linked glycoproteins by cleaving the glycan chain before the proteins are degraded by the proteasome (<a href="#10" class="mim-tip-reference" title="Zhou, X., Zhao, G., Truglio, J. J., Wang, L., Li, G., Lennarz, W. J., Schindelin, H. <strong>Structural and biochemical studies of the C-terminal domain of mouse peptide-N-glycanase identify it as a mannose-binding module.</strong> Proc. Nat. Acad. Sci. 103: 17214-17219, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17088551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17088551</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17088551[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.0602954103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17088551">Zhou et al., 2006</a>). NGLY1 is a cytoplasmic component of the endoplasmic reticulum-associated degradation (ERAD) pathway that identifies and degrades misfolded glycoproteins (summary by <a href="#1" class="mim-tip-reference" title="Enns, G. M., Shashi, V., Bainbridge, M., Gambello, M. J., Zahir, F. R., Bast, T., Crimian, R., Schoch, K., Platt, J., Cox, R., Bernstein, J. A., Scavina, M., and 22 others. <strong>Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.</strong> Genet. Med. 16: 751-758, 2014. Note: Erratum: Genet. Med. 16: 568 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24651605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24651605</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24651605[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/gim.2014.22" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24651605">Enns et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17088551+24651605" 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 EST database analysis, <a href="#9" class="mim-tip-reference" title="Suzuki, T., Park, H., Hollingsworth, N. M., Sternglanz, R., Lennarz, W. J. <strong>PNG1, a yeast gene encoding a highly conserved peptide:N-glycanase.</strong> J. Cell Biol. 149: 1039-1051, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10831608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10831608</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10831608[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/10.1083/jcb.149.5.1039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10831608">Suzuki et al. (2000)</a> identified several homologs of yeast Png1, including human NGLY1. In yeast, Png1 was expressed in both the cytoplasm and nucleus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10831608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Suzuki, T., Kwofie, M. A., Lennarz, W. J. <strong>Ngly1, a mouse gene encoding a deglycosylating enzyme implicated in proteasomal degradation: expression, genomic organization, and chromosomal mapping.</strong> Biochem. Biophys. Res. Commun. 304: 326-332, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12711318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12711318</a>] [<a href="https://doi.org/10.1016/s0006-291x(03)00600-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12711318">Suzuki et al. (2003)</a> cloned mouse Ngly1, and by database analysis, they identified human NGLY1. The deduced 654-amino acid human protein contains an N-terminal PUB/PUG protein-protein interaction domain and a central transglutaminase-like motif containing the catalytic triad of the active site. Mouse and human NGLY1 share 98% identity in these 2 domains. Northern blot analysis detected Ngly1 expression in all mouse tissues examined, with highest expression in testis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12711318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Zhou, X., Zhao, G., Truglio, J. J., Wang, L., Li, G., Lennarz, W. J., Schindelin, H. <strong>Structural and biochemical studies of the C-terminal domain of mouse peptide-N-glycanase identify it as a mannose-binding module.</strong> Proc. Nat. Acad. Sci. 103: 17214-17219, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17088551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17088551</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17088551[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.0602954103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17088551">Zhou et al. (2006)</a> resolved the crystal structure of the C-terminal domain of mouse Ngly1 to 2-angstrom resolution. The C-terminal domain has a beta-sandwich architecture composed of 2 layers containing 9 and 8 antiparallel beta strands, respectively, and 3 additional short helices. <a href="#10" class="mim-tip-reference" title="Zhou, X., Zhao, G., Truglio, J. J., Wang, L., Li, G., Lennarz, W. J., Schindelin, H. <strong>Structural and biochemical studies of the C-terminal domain of mouse peptide-N-glycanase identify it as a mannose-binding module.</strong> Proc. Nat. Acad. Sci. 103: 17214-17219, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17088551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17088551</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17088551[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.0602954103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17088551">Zhou et al. (2006)</a> identified several solvent-exposed residues involved in binding the mannose moieties of N-linked oligosaccharide chains. Biochemical analysis indicated that the C-terminal domain enhances the catalytic activity of Ngly1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17088551" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Suzuki, T., Kwofie, M. A., Lennarz, W. J. <strong>Ngly1, a mouse gene encoding a deglycosylating enzyme implicated in proteasomal degradation: expression, genomic organization, and chromosomal mapping.</strong> Biochem. Biophys. Res. Commun. 304: 326-332, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12711318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12711318</a>] [<a href="https://doi.org/10.1016/s0006-291x(03)00600-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12711318">Suzuki et al. (2003)</a> determined that the NGLY1 gene contains 12 exons and spans about 70 kb. The mouse gene has a similar organization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12711318" 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 radiation hybrid analysis, <a href="#8" class="mim-tip-reference" title="Suzuki, T., Kwofie, M. A., Lennarz, W. J. <strong>Ngly1, a mouse gene encoding a deglycosylating enzyme implicated in proteasomal degradation: expression, genomic organization, and chromosomal mapping.</strong> Biochem. Biophys. Res. Commun. 304: 326-332, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12711318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12711318</a>] [<a href="https://doi.org/10.1016/s0006-291x(03)00600-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12711318">Suzuki et al. (2003)</a> mapped the human and mouse NGLY1 genes to chromosomes 3 and 14, respectively. Database analysis suggested that the human gene maps to chromosome 3p24. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12711318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Suzuki, T., Park, H., Hollingsworth, N. M., Sternglanz, R., Lennarz, W. J. <strong>PNG1, a yeast gene encoding a highly conserved peptide:N-glycanase.</strong> J. Cell Biol. 149: 1039-1051, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10831608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10831608</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10831608[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/10.1083/jcb.149.5.1039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10831608">Suzuki et al. (2000)</a> found that recombinant yeast Png1 was soluble. Deletion of Png1 in yeast delayed degradation of a mutant form of carboxypeptidase Y. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10831608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using phylogenetic and mutational analyses, <a href="#3" class="mim-tip-reference" title="Lehrbach, N. J., Breen, P. C., Ruvkun, G. <strong>Protein sequence editing of SKN-1A/Nrf1 by peptide:N-glycanase controls proteasome gene expression.</strong> Cell 177: 737-750, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31002798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31002798</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31002798[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.cell.2019.03.035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31002798">Lehrbach et al. (2019)</a> identified 4 conserved N-glycosylation sites on C. elegans Skn1a (POU2F3; <a href="/entry/607394">607394</a>). Following release of N-glycosylated Skn1a from the ER, C. elegans Skn1a was deglycosylated by Png1 to convert asparagine residues to aspartate residues. Subsequently, the deglycosylated Skn1a underwent proteolytic cleavage by the Ddi1 (see <a href="/entry/620871">620871</a>) aspartic protease to generate a truncated and activated form of Skn1a. Ddi1-dependent protease cleavage removed the N-terminal ER-targeting domain of Skn1a, which allowed the protein to escape from proteasomal degradation. <a href="#3" class="mim-tip-reference" title="Lehrbach, N. J., Breen, P. C., Ruvkun, G. <strong>Protein sequence editing of SKN-1A/Nrf1 by peptide:N-glycanase controls proteasome gene expression.</strong> Cell 177: 737-750, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31002798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31002798</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31002798[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.cell.2019.03.035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31002798">Lehrbach et al. (2019)</a> suggested that conversion of 4 asparagine residues to aspartate residues likely introduced a new function to this domain, e.g., a binding site for cofactors that are critical for transcriptional regulation of proteasome subunit genes. In line with these results, truncated and deglycosylated Skn1a constitutively increased proteasome levels and enhanced proteostasis in C. elegans, and protected them against protein aggregation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31002798" 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 whole-exome sequencing in a family in which a child had a congenital disorder of deglycosylation (CDDG1; <a href="/entry/615273">615273</a>), <a href="#4" class="mim-tip-reference" title="Need, A. C., Shashi, V., Hitomi, Y., Schoch, K., Shianna, K. V., McDonald, M. T., Meisler, M. H., Goldstein, D. B. <strong>Clinical application of exome sequencing in undiagnosed genetic conditions.</strong> J. Med. Genet. 49: 353-361, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22581936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22581936</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22581936[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/10.1136/jmedgenet-2012-100819" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22581936">Need et al. (2012)</a> found that the boy was compound heterozygous for 2 mutations in the NGLY1 gene: a frameshift mutation in exon 12 (<a href="#0001">610661.0001</a>) inherited from his mother, and a nonsense mutation in exon 8 (R401X; <a href="#0002">610661.0002</a>) inherited from his father. <a href="#4" class="mim-tip-reference" title="Need, A. C., Shashi, V., Hitomi, Y., Schoch, K., Shianna, K. V., McDonald, M. T., Meisler, M. H., Goldstein, D. B. <strong>Clinical application of exome sequencing in undiagnosed genetic conditions.</strong> J. Med. Genet. 49: 353-361, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22581936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22581936</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22581936[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/10.1136/jmedgenet-2012-100819" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22581936">Need et al. (2012)</a> compared NGLY1 protein expression in leukocytes extracted from blood from the patient, his parents, and 3 controls. Both parents showed reduced expression compared with controls, and the patient had barely discernible levels of NGLY1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22581936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 patients from 3 families with CDDG1, <a href="#1" class="mim-tip-reference" title="Enns, G. M., Shashi, V., Bainbridge, M., Gambello, M. J., Zahir, F. R., Bast, T., Crimian, R., Schoch, K., Platt, J., Cox, R., Bernstein, J. A., Scavina, M., and 22 others. <strong>Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.</strong> Genet. Med. 16: 751-758, 2014. Note: Erratum: Genet. Med. 16: 568 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24651605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24651605</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24651605[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/gim.2014.22" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24651605">Enns et al. (2014)</a> identified a homozygous R401X mutation in the NGLY1 gene. All of the patients were Caucasian and of European descent, suggesting the possibility of a founder mutation. Two additional patients were found to carry biallelic NGLY1 mutations (<a href="#0003">610661.0003</a>-<a href="#0005">610661.0005</a>). The patients had global developmental delay, hypotonia, and a movement disorder. Other features included hypolacrima or alacrima, abnormal liver enzymes, microcephaly, and seizures. Liver biopsy showed cytoplasmic accumulation of storage material in vacuoles, consistent with accumulation of intact but misfolded glycoproteins. <a href="#1" class="mim-tip-reference" title="Enns, G. M., Shashi, V., Bainbridge, M., Gambello, M. J., Zahir, F. R., Bast, T., Crimian, R., Schoch, K., Platt, J., Cox, R., Bernstein, J. A., Scavina, M., and 22 others. <strong>Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.</strong> Genet. Med. 16: 751-758, 2014. Note: Erratum: Genet. Med. 16: 568 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24651605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24651605</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24651605[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/gim.2014.22" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24651605">Enns et al. (2014)</a> concluded that the disorder is caused by dysfunction of the ERAD pathway and the cytosolic proteasome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24651605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By whole-exome sequencing, <a href="#5" class="mim-tip-reference" title="Panneman, D. M., Wortmann, S. B., Haaxma, C. A., van Hasselt, P. M., Wolf, N. I., Hendriks, Y., Kusters, B., van Emst-deVries, S., van de Westerlo, E., Koopman, W. J. H., Wintjes, L., van den Brandt, F., de Vries, M., Lefeber, D. J., Smeitink, J. A. M., Rodenburg, R. J. <strong>Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.</strong> Clin. Genet. 97: 556-566, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31957011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31957011</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31957011[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/10.1111/cge.13706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31957011">Panneman et al. (2020)</a> identified homozygous or compound heterozygous mutations in the NGYL1 gene (<a href="#0002">610661.0002</a>; <a href="#0006">610661.0006</a>-<a href="#0008">610661.0008</a>) in 4 patients with CDDG1. Western blot analysis in muscle tissue and fibroblasts from all 4 patients showed absence of NGLY1 protein expression. Evidence was found for mitochondrial dysfunction in patient fibroblasts and muscle tissue. In patients 2 and 4, fibroblast mitochondria were smaller and less branched compared to controls, and maximal respiration and basal respiration were reduced in fibroblasts from patient 4 compared to controls. Biochemical evaluation in muscle tissue from all 4 patients showed reduced mitochondrial ATP production from oxidation of pyruvate and malate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31957011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using whole-exome sequencing, in a boy with congenital disorder of deglycosylation (CDDG1; <a href="/entry/615273">615273</a>) and his parents, <a href="#4" class="mim-tip-reference" title="Need, A. C., Shashi, V., Hitomi, Y., Schoch, K., Shianna, K. V., McDonald, M. T., Meisler, M. H., Goldstein, D. B. <strong>Clinical application of exome sequencing in undiagnosed genetic conditions.</strong> J. Med. Genet. 49: 353-361, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22581936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22581936</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22581936[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/10.1136/jmedgenet-2012-100819" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22581936">Need et al. (2012)</a> found that the boy was compound heterozygous for 2 mutations in the NGLY1 gene: a frameshift mutation in exon 12 inherited from his mother, and a nonsense mutation in exon 8 inherited from his father. The frameshift mutation resulted from a 1-bp deletion (c.1891delC) and the nonsense mutation (R401X; <a href="#0002">610661.0002</a>) resulted from a 1201A-T transversion (<a href="#7" class="mim-tip-reference" title="Shashi, V. <strong>Personal Communication.</strong> Durham, N.C. 6/11/2013."None>Shashi, 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22581936" 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>For discussion of the arg401-to-ter (R401X) mutation in the NGLY1 gene that was found in compound heterozygous state in a patient with congenital disorder of deglycosylation (CDDG1; <a href="/entry/615273">615273</a>) by <a href="#4" class="mim-tip-reference" title="Need, A. C., Shashi, V., Hitomi, Y., Schoch, K., Shianna, K. V., McDonald, M. T., Meisler, M. H., Goldstein, D. B. <strong>Clinical application of exome sequencing in undiagnosed genetic conditions.</strong> J. Med. Genet. 49: 353-361, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22581936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22581936</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22581936[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/10.1136/jmedgenet-2012-100819" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22581936">Need et al. (2012)</a>, see <a href="#0001">610661.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22581936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 patients from 3 families with CDDG1, <a href="#1" class="mim-tip-reference" title="Enns, G. M., Shashi, V., Bainbridge, M., Gambello, M. J., Zahir, F. R., Bast, T., Crimian, R., Schoch, K., Platt, J., Cox, R., Bernstein, J. A., Scavina, M., and 22 others. <strong>Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.</strong> Genet. Med. 16: 751-758, 2014. Note: Erratum: Genet. Med. 16: 568 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24651605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24651605</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24651605[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/gim.2014.22" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24651605">Enns et al. (2014)</a> identified a homozygous c.1201A-T transversion in exon 8 of the NGLY1 gene, resulting in an arg401-to-ter (R401X) substitution. All of the patients were Caucasian and of European descent, suggesting the possibility of a founder mutation. The R401X mutation was found in 2 of 8,598 chromosomes of European ancestry and once among African American chromosomes in the Exome Variant Server database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24651605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The R401X mutation was the most common among the 12 individuals studied by <a href="#2" class="mim-tip-reference" title="Lam, C., Ferreira, C., Krasnewich, D., Toro, C., Latham, L., Zein, W. M., Lehky, T., Brewer, C., Baker, E. H., Thurm, A., Farmer, C. A., Rosenzweig, S. D., and 12 others. <strong>Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.</strong> Genet. Med. 19: 160-168, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27388694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27388694</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27388694[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/gim.2016.75" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27388694">Lam et al. (2017)</a>, accounting for 7 alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27388694" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 unrelated patients with CDDG1, <a href="#5" class="mim-tip-reference" title="Panneman, D. M., Wortmann, S. B., Haaxma, C. A., van Hasselt, P. M., Wolf, N. I., Hendriks, Y., Kusters, B., van Emst-deVries, S., van de Westerlo, E., Koopman, W. J. H., Wintjes, L., van den Brandt, F., de Vries, M., Lefeber, D. J., Smeitink, J. A. M., Rodenburg, R. J. <strong>Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.</strong> Clin. Genet. 97: 556-566, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31957011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31957011</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31957011[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/10.1111/cge.13706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31957011">Panneman et al. (2020)</a> identified the R401X mutation in the NGLY1 gene: patient 2 was homozygous for the mutation, whereas patient 1 also had a c.849T-G transversion, resulting in a cys283-to-trp (C283W; <a href="#0006">610661.0006</a>) substitution, and patient 3 had a c.1067A-G transition, resulting in a glu356-to-gly (E356G; <a href="#0007">610661.0007</a>) substitution. The mutations were identified by whole-exome sequencing, and the parents in all families were confirmed to be carriers. Western blot analysis in patient muscle tissue and fibroblasts showed absence of NGLY1 protein expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31957011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777265 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777265;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587777265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an Italian girl with congenital disorder of deglycosylation (CDDG1; <a href="/entry/615273">615273</a>), <a href="#1" class="mim-tip-reference" title="Enns, G. M., Shashi, V., Bainbridge, M., Gambello, M. J., Zahir, F. R., Bast, T., Crimian, R., Schoch, K., Platt, J., Cox, R., Bernstein, J. A., Scavina, M., and 22 others. <strong>Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.</strong> Genet. Med. 16: 751-758, 2014. Note: Erratum: Genet. Med. 16: 568 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24651605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24651605</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24651605[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/gim.2014.22" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24651605">Enns et al. (2014)</a> identified a homozygous 1-bp duplication (c.1370dupG) in exon 9 of the NGLY1 gene, resulting in a frameshift and premature termination (Arg458fsTer). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the Exome Variant Server database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24651605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587777266 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777266;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs587777266?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587777266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 4-year-old Caucasian girl of European descent with congenital disorder of deglycosylation (CDDG1; <a href="/entry/615273">615273</a>), <a href="#1" class="mim-tip-reference" title="Enns, G. M., Shashi, V., Bainbridge, M., Gambello, M. J., Zahir, F. R., Bast, T., Crimian, R., Schoch, K., Platt, J., Cox, R., Bernstein, J. A., Scavina, M., and 22 others. <strong>Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.</strong> Genet. Med. 16: 751-758, 2014. Note: Erratum: Genet. Med. 16: 568 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24651605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24651605</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24651605[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/gim.2014.22" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24651605">Enns et al. (2014)</a> identified compound heterozygosity for 2 mutations in the NGLY1 gene: a 3-bp deletion (c.1205_1207delTTC), resulting in the deletion of 1 residue (402del), and a c.1570C-T transition, resulting in an arg542-to-ter (R542X; <a href="#0005">610661.0005</a>) substitution. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24651605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs528583612 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs528583612;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs528583612?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs528583612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs528583612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the arg542-to-ter (R542X) mutation in the NGLY1 gene that was found in compound heterozygous state in a patient with congenital disorder of deglycosylation (CDDG1; <a href="/entry/615273">615273</a>) by <a href="#1" class="mim-tip-reference" title="Enns, G. M., Shashi, V., Bainbridge, M., Gambello, M. J., Zahir, F. R., Bast, T., Crimian, R., Schoch, K., Platt, J., Cox, R., Bernstein, J. A., Scavina, M., and 22 others. <strong>Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.</strong> Genet. Med. 16: 751-758, 2014. Note: Erratum: Genet. Med. 16: 568 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24651605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24651605</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24651605[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/gim.2014.22" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24651605">Enns et al. (2014)</a>, see <a href="#0004">610661.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24651605" 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>For discussion of the c.849T-G transversion in the NGLY1 gene, resulting in a cys283-to-trp (C283W) substitution, that was found in compound heterozygous state in a patient with congenital disorder of deglycosylation (CDDG1; <a href="/entry/615273">615273</a>) by <a href="#5" class="mim-tip-reference" title="Panneman, D. M., Wortmann, S. B., Haaxma, C. A., van Hasselt, P. M., Wolf, N. I., Hendriks, Y., Kusters, B., van Emst-deVries, S., van de Westerlo, E., Koopman, W. J. H., Wintjes, L., van den Brandt, F., de Vries, M., Lefeber, D. J., Smeitink, J. A. M., Rodenburg, R. J. <strong>Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.</strong> Clin. Genet. 97: 556-566, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31957011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31957011</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31957011[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/10.1111/cge.13706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31957011">Panneman et al. (2020)</a>, see <a href="#0002">610661.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31957011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1705803915 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1705803915;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1705803915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1705803915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the c.1067A-G transition in the NGLY1 gene, resulting in a glu356-to-gly (E356G) substitution, that was found in compound heterozygous state in a patient with congenital disorder of deglycosylation (CDDG1; <a href="/entry/615273">615273</a>) by <a href="#5" class="mim-tip-reference" title="Panneman, D. M., Wortmann, S. B., Haaxma, C. A., van Hasselt, P. M., Wolf, N. I., Hendriks, Y., Kusters, B., van Emst-deVries, S., van de Westerlo, E., Koopman, W. J. H., Wintjes, L., van den Brandt, F., de Vries, M., Lefeber, D. J., Smeitink, J. A. M., Rodenburg, R. J. <strong>Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.</strong> Clin. Genet. 97: 556-566, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31957011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31957011</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31957011[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/10.1111/cge.13706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31957011">Panneman et al. (2020)</a>, see <a href="#0002">610661.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31957011" 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>.0008 CONGENITAL DISORDER OF DEGLYCOSYLATION 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1704873196 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1704873196;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1704873196" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1704873196" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001270701" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001270701" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001270701</a>
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<p>In a North African patient with congenital disorder of deglycosylation (CDDG1; <a href="/entry/615273">615273</a>), <a href="#5" class="mim-tip-reference" title="Panneman, D. M., Wortmann, S. B., Haaxma, C. A., van Hasselt, P. M., Wolf, N. I., Hendriks, Y., Kusters, B., van Emst-deVries, S., van de Westerlo, E., Koopman, W. J. H., Wintjes, L., van den Brandt, F., de Vries, M., Lefeber, D. J., Smeitink, J. A. M., Rodenburg, R. J. <strong>Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.</strong> Clin. Genet. 97: 556-566, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31957011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31957011</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31957011[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/10.1111/cge.13706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31957011">Panneman et al. (2020)</a> identified homozygosity for a 1-bp deletion (c.1837del) in the NGLY1 gene, predicted to result in a frameshift and premature termination (Ile613PhefsTer6). The mutation was identified by whole-exome sequencing, and the parents were confirmed to be carriers. Western blot analysis in patient muscle and fibroblasts showed absence of NGLY1 protein expression. (In the article by <a href="#5" class="mim-tip-reference" title="Panneman, D. M., Wortmann, S. B., Haaxma, C. A., van Hasselt, P. M., Wolf, N. I., Hendriks, Y., Kusters, B., van Emst-deVries, S., van de Westerlo, E., Koopman, W. J. H., Wintjes, L., van den Brandt, F., de Vries, M., Lefeber, D. J., Smeitink, J. A. M., Rodenburg, R. J. <strong>Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.</strong> Clin. Genet. 97: 556-566, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31957011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31957011</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31957011[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/10.1111/cge.13706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31957011">Panneman et al. (2020)</a>, the frameshift is designated Gln613fs in table 1, but as Ile613Phefs*6 in the text. <a href="#6" class="mim-tip-reference" title="Rodenburg, R. <strong>Personal Communication.</strong> Nijmegen, The Netherlands 12/2/2020."None>Rodenburg (2020)</a> confirmed that Ile613Phefs*6 is correct.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31957011" 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>REFERENCES</strong>
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<strong>Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.</strong>
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Genet. Med. 16: 751-758, 2014. Note: Erratum: Genet. Med. 16: 568 only, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24651605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24651605</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24651605[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=24651605" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/gim.2014.22" target="_blank">Full Text</a>]
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Lam, C., Ferreira, C., Krasnewich, D., Toro, C., Latham, L., Zein, W. M., Lehky, T., Brewer, C., Baker, E. H., Thurm, A., Farmer, C. A., Rosenzweig, S. D., and 12 others.
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<strong>Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.</strong>
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Genet. Med. 19: 160-168, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27388694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27388694</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27388694[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=27388694" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/gim.2016.75" target="_blank">Full Text</a>]
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Lehrbach, N. J., Breen, P. C., Ruvkun, G.
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<strong>Protein sequence editing of SKN-1A/Nrf1 by peptide:N-glycanase controls proteasome gene expression.</strong>
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Cell 177: 737-750, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31002798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31002798</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31002798[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=31002798" 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.cell.2019.03.035" target="_blank">Full Text</a>]
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Need, A. C., Shashi, V., Hitomi, Y., Schoch, K., Shianna, K. V., McDonald, M. T., Meisler, M. H., Goldstein, D. B.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22581936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22581936</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22581936[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=22581936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Panneman, D. M., Wortmann, S. B., Haaxma, C. A., van Hasselt, P. M., Wolf, N. I., Hendriks, Y., Kusters, B., van Emst-deVries, S., van de Westerlo, E., Koopman, W. J. H., Wintjes, L., van den Brandt, F., de Vries, M., Lefeber, D. J., Smeitink, J. A. M., Rodenburg, R. J.
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<strong>Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.</strong>
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Clin. Genet. 97: 556-566, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31957011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31957011</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31957011[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=31957011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Nijmegen, The Netherlands 12/2/2020.
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Suzuki, T., Kwofie, M. A., Lennarz, W. J.
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<strong>Ngly1, a mouse gene encoding a deglycosylating enzyme implicated in proteasomal degradation: expression, genomic organization, and chromosomal mapping.</strong>
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Suzuki, T., Park, H., Hollingsworth, N. M., Sternglanz, R., Lennarz, W. J.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10831608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10831608</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10831608[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=10831608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Zhou2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhou, X., Zhao, G., Truglio, J. J., Wang, L., Li, G., Lennarz, W. J., Schindelin, H.
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<strong>Structural and biochemical studies of the C-terminal domain of mouse peptide-N-glycanase identify it as a mannose-binding module.</strong>
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Proc. Nat. Acad. Sci. 103: 17214-17219, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17088551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17088551</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17088551[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=17088551" 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.0602954103" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<br />
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 01/04/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 12/18/2020<br>Ada Hamosh - updated : 05/07/2019<br>Cassandra L. Kniffin - updated : 3/26/2014<br>Nara Sobreira - updated : 6/12/2013
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 12/19/2006
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</span>
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</div>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 06/27/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 06/27/2024<br>carol : 03/03/2022<br>mgross : 01/04/2021<br>carol : 12/21/2020<br>carol : 12/18/2020<br>alopez : 05/07/2019<br>carol : 08/17/2016<br>joanna : 07/28/2015<br>mcolton : 6/15/2015<br>mcolton : 10/7/2014<br>ckniffin : 4/2/2014<br>carol : 4/1/2014<br>mcolton : 3/31/2014<br>ckniffin : 3/26/2014<br>carol : 6/12/2013<br>carol : 6/12/2013<br>mgross : 12/19/2006
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</span>
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 610661
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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N-GLYCANASE 1; NGLY1
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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PEPTIDE-N-GLYCANASE 1, S. CEREVISIAE, HOMOLOG OF; PNG1
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</span>
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</h4>
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</div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: NGLY1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 768846004;
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</span>
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</p>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 3p24.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:25,718,944-25,790,039 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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3p24.2
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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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Congenital disorder of deglycosylation 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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615273
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<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 NGLY1 gene encodes N-glycanase (EC 3.5.1.52), a highly conserved enzyme that catalyzes deglycosylation of misfolded N-linked glycoproteins by cleaving the glycan chain before the proteins are degraded by the proteasome (Zhou et al., 2006). NGLY1 is a cytoplasmic component of the endoplasmic reticulum-associated degradation (ERAD) pathway that identifies and degrades misfolded glycoproteins (summary by Enns et al., 2014). </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 EST database analysis, Suzuki et al. (2000) identified several homologs of yeast Png1, including human NGLY1. In yeast, Png1 was expressed in both the cytoplasm and nucleus. </p><p>Suzuki et al. (2003) cloned mouse Ngly1, and by database analysis, they identified human NGLY1. The deduced 654-amino acid human protein contains an N-terminal PUB/PUG protein-protein interaction domain and a central transglutaminase-like motif containing the catalytic triad of the active site. Mouse and human NGLY1 share 98% identity in these 2 domains. Northern blot analysis detected Ngly1 expression in all mouse tissues examined, with highest expression in testis. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Zhou et al. (2006) resolved the crystal structure of the C-terminal domain of mouse Ngly1 to 2-angstrom resolution. The C-terminal domain has a beta-sandwich architecture composed of 2 layers containing 9 and 8 antiparallel beta strands, respectively, and 3 additional short helices. Zhou et al. (2006) identified several solvent-exposed residues involved in binding the mannose moieties of N-linked oligosaccharide chains. Biochemical analysis indicated that the C-terminal domain enhances the catalytic activity of Ngly1. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Suzuki et al. (2003) determined that the NGLY1 gene contains 12 exons and spans about 70 kb. The mouse gene has a similar organization. </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>By radiation hybrid analysis, Suzuki et al. (2003) mapped the human and mouse NGLY1 genes to chromosomes 3 and 14, respectively. Database analysis suggested that the human gene maps to chromosome 3p24. </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">
|
|
<strong>Gene Function</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Suzuki et al. (2000) found that recombinant yeast Png1 was soluble. Deletion of Png1 in yeast delayed degradation of a mutant form of carboxypeptidase Y. </p><p>Using phylogenetic and mutational analyses, Lehrbach et al. (2019) identified 4 conserved N-glycosylation sites on C. elegans Skn1a (POU2F3; 607394). Following release of N-glycosylated Skn1a from the ER, C. elegans Skn1a was deglycosylated by Png1 to convert asparagine residues to aspartate residues. Subsequently, the deglycosylated Skn1a underwent proteolytic cleavage by the Ddi1 (see 620871) aspartic protease to generate a truncated and activated form of Skn1a. Ddi1-dependent protease cleavage removed the N-terminal ER-targeting domain of Skn1a, which allowed the protein to escape from proteasomal degradation. Lehrbach et al. (2019) suggested that conversion of 4 asparagine residues to aspartate residues likely introduced a new function to this domain, e.g., a binding site for cofactors that are critical for transcriptional regulation of proteasome subunit genes. In line with these results, truncated and deglycosylated Skn1a constitutively increased proteasome levels and enhanced proteostasis in C. elegans, and protected them against protein aggregation. </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">
|
|
<strong>Molecular Genetics</strong>
|
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</span>
|
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By whole-exome sequencing in a family in which a child had a congenital disorder of deglycosylation (CDDG1; 615273), Need et al. (2012) found that the boy was compound heterozygous for 2 mutations in the NGLY1 gene: a frameshift mutation in exon 12 (610661.0001) inherited from his mother, and a nonsense mutation in exon 8 (R401X; 610661.0002) inherited from his father. Need et al. (2012) compared NGLY1 protein expression in leukocytes extracted from blood from the patient, his parents, and 3 controls. Both parents showed reduced expression compared with controls, and the patient had barely discernible levels of NGLY1. </p><p>In 5 patients from 3 families with CDDG1, Enns et al. (2014) identified a homozygous R401X mutation in the NGLY1 gene. All of the patients were Caucasian and of European descent, suggesting the possibility of a founder mutation. Two additional patients were found to carry biallelic NGLY1 mutations (610661.0003-610661.0005). The patients had global developmental delay, hypotonia, and a movement disorder. Other features included hypolacrima or alacrima, abnormal liver enzymes, microcephaly, and seizures. Liver biopsy showed cytoplasmic accumulation of storage material in vacuoles, consistent with accumulation of intact but misfolded glycoproteins. Enns et al. (2014) concluded that the disorder is caused by dysfunction of the ERAD pathway and the cytosolic proteasome. </p><p>By whole-exome sequencing, Panneman et al. (2020) identified homozygous or compound heterozygous mutations in the NGYL1 gene (610661.0002; 610661.0006-610661.0008) in 4 patients with CDDG1. Western blot analysis in muscle tissue and fibroblasts from all 4 patients showed absence of NGLY1 protein expression. Evidence was found for mitochondrial dysfunction in patient fibroblasts and muscle tissue. In patients 2 and 4, fibroblast mitochondria were smaller and less branched compared to controls, and maximal respiration and basal respiration were reduced in fibroblasts from patient 4 compared to controls. Biochemical evaluation in muscle tissue from all 4 patients showed reduced mitochondrial ATP production from oxidation of pyruvate and malate. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>8 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 CONGENITAL DISORDER OF DEGLYCOSYLATION 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NGLY1, 1-BP DEL, 1891C
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<br />
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|
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SNP: rs587776982,
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gnomAD: rs587776982,
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ClinVar: RCV000043662, RCV000255027, RCV003147331
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>Using whole-exome sequencing, in a boy with congenital disorder of deglycosylation (CDDG1; 615273) and his parents, Need et al. (2012) found that the boy was compound heterozygous for 2 mutations in the NGLY1 gene: a frameshift mutation in exon 12 inherited from his mother, and a nonsense mutation in exon 8 inherited from his father. The frameshift mutation resulted from a 1-bp deletion (c.1891delC) and the nonsense mutation (R401X; 610661.0002) resulted from a 1201A-T transversion (Shashi, 2013). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0002 CONGENITAL DISORDER OF DEGLYCOSYLATION 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NGLY1, ARG401TER
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<br />
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SNP: rs201337954,
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gnomAD: rs201337954,
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ClinVar: RCV000043663, RCV000309063, RCV002477142
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the arg401-to-ter (R401X) mutation in the NGLY1 gene that was found in compound heterozygous state in a patient with congenital disorder of deglycosylation (CDDG1; 615273) by Need et al. (2012), see 610661.0001. </p><p>In 5 patients from 3 families with CDDG1, Enns et al. (2014) identified a homozygous c.1201A-T transversion in exon 8 of the NGLY1 gene, resulting in an arg401-to-ter (R401X) substitution. All of the patients were Caucasian and of European descent, suggesting the possibility of a founder mutation. The R401X mutation was found in 2 of 8,598 chromosomes of European ancestry and once among African American chromosomes in the Exome Variant Server database. </p><p>The R401X mutation was the most common among the 12 individuals studied by Lam et al. (2017), accounting for 7 alleles. </p><p>In 3 unrelated patients with CDDG1, Panneman et al. (2020) identified the R401X mutation in the NGLY1 gene: patient 2 was homozygous for the mutation, whereas patient 1 also had a c.849T-G transversion, resulting in a cys283-to-trp (C283W; 610661.0006) substitution, and patient 3 had a c.1067A-G transition, resulting in a glu356-to-gly (E356G; 610661.0007) substitution. The mutations were identified by whole-exome sequencing, and the parents in all families were confirmed to be carriers. Western blot analysis in patient muscle tissue and fibroblasts showed absence of NGLY1 protein expression. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 CONGENITAL DISORDER OF DEGLYCOSYLATION 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NGLY1, 1-BP DUP, 1370G
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<br />
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SNP: rs587777265,
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ClinVar: RCV000114362, RCV001008537
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</span>
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</div>
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<span class="mim-text-font">
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<p>In an Italian girl with congenital disorder of deglycosylation (CDDG1; 615273), Enns et al. (2014) identified a homozygous 1-bp duplication (c.1370dupG) in exon 9 of the NGLY1 gene, resulting in a frameshift and premature termination (Arg458fsTer). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the Exome Variant Server database. </p>
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</span>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 CONGENITAL DISORDER OF DEGLYCOSYLATION 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NGLY1, 3-BP DEL, 1205TTC
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<br />
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SNP: rs587777266,
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gnomAD: rs587777266,
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ClinVar: RCV000114363
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 4-year-old Caucasian girl of European descent with congenital disorder of deglycosylation (CDDG1; 615273), Enns et al. (2014) identified compound heterozygosity for 2 mutations in the NGLY1 gene: a 3-bp deletion (c.1205_1207delTTC), resulting in the deletion of 1 residue (402del), and a c.1570C-T transition, resulting in an arg542-to-ter (R542X; 610661.0005) substitution. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 CONGENITAL DISORDER OF DEGLYCOSYLATION 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NGLY1, ARG542TER
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<br />
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SNP: rs528583612,
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gnomAD: rs528583612,
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ClinVar: RCV000114364, RCV000578992, RCV005025175
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the arg542-to-ter (R542X) mutation in the NGLY1 gene that was found in compound heterozygous state in a patient with congenital disorder of deglycosylation (CDDG1; 615273) by Enns et al. (2014), see 610661.0004. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 CONGENITAL DISORDER OF DEGLYCOSYLATION 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NGLY1, CYS283TRP
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<br />
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SNP: rs1706021603,
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ClinVar: RCV001270699
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the c.849T-G transversion in the NGLY1 gene, resulting in a cys283-to-trp (C283W) substitution, that was found in compound heterozygous state in a patient with congenital disorder of deglycosylation (CDDG1; 615273) by Panneman et al. (2020), see 610661.0002. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 CONGENITAL DISORDER OF DEGLYCOSYLATION 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NGLY1, GLU356GLY
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<br />
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SNP: rs1705803915,
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ClinVar: RCV001270700
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>For discussion of the c.1067A-G transition in the NGLY1 gene, resulting in a glu356-to-gly (E356G) substitution, that was found in compound heterozygous state in a patient with congenital disorder of deglycosylation (CDDG1; 615273) by Panneman et al. (2020), see 610661.0002. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 CONGENITAL DISORDER OF DEGLYCOSYLATION 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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NGLY1, 1-BP DEL, NT1837
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<br />
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SNP: rs1704873196,
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ClinVar: RCV001270701
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a North African patient with congenital disorder of deglycosylation (CDDG1; 615273), Panneman et al. (2020) identified homozygosity for a 1-bp deletion (c.1837del) in the NGLY1 gene, predicted to result in a frameshift and premature termination (Ile613PhefsTer6). The mutation was identified by whole-exome sequencing, and the parents were confirmed to be carriers. Western blot analysis in patient muscle and fibroblasts showed absence of NGLY1 protein expression. (In the article by Panneman et al. (2020), the frameshift is designated Gln613fs in table 1, but as Ile613Phefs*6 in the text. Rodenburg (2020) confirmed that Ile613Phefs*6 is correct.) </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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</span>
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</h4>
|
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<div>
|
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
|
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<p class="mim-text-font">
|
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Enns, G. M., Shashi, V., Bainbridge, M., Gambello, M. J., Zahir, F. R., Bast, T., Crimian, R., Schoch, K., Platt, J., Cox, R., Bernstein, J. A., Scavina, M., and 22 others.
|
|
<strong>Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.</strong>
|
|
Genet. Med. 16: 751-758, 2014. Note: Erratum: Genet. Med. 16: 568 only, 2014.
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|
[PubMed: 24651605]
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[Full Text: https://doi.org/10.1038/gim.2014.22]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Lam, C., Ferreira, C., Krasnewich, D., Toro, C., Latham, L., Zein, W. M., Lehky, T., Brewer, C., Baker, E. H., Thurm, A., Farmer, C. A., Rosenzweig, S. D., and 12 others.
|
|
<strong>Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.</strong>
|
|
Genet. Med. 19: 160-168, 2017.
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[PubMed: 27388694]
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[Full Text: https://doi.org/10.1038/gim.2016.75]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Lehrbach, N. J., Breen, P. C., Ruvkun, G.
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<strong>Protein sequence editing of SKN-1A/Nrf1 by peptide:N-glycanase controls proteasome gene expression.</strong>
|
|
Cell 177: 737-750, 2019.
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[PubMed: 31002798]
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[Full Text: https://doi.org/10.1016/j.cell.2019.03.035]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Need, A. C., Shashi, V., Hitomi, Y., Schoch, K., Shianna, K. V., McDonald, M. T., Meisler, M. H., Goldstein, D. B.
|
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<strong>Clinical application of exome sequencing in undiagnosed genetic conditions.</strong>
|
|
J. Med. Genet. 49: 353-361, 2012.
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[PubMed: 22581936]
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[Full Text: https://doi.org/10.1136/jmedgenet-2012-100819]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Panneman, D. M., Wortmann, S. B., Haaxma, C. A., van Hasselt, P. M., Wolf, N. I., Hendriks, Y., Kusters, B., van Emst-deVries, S., van de Westerlo, E., Koopman, W. J. H., Wintjes, L., van den Brandt, F., de Vries, M., Lefeber, D. J., Smeitink, J. A. M., Rodenburg, R. J.
|
|
<strong>Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.</strong>
|
|
Clin. Genet. 97: 556-566, 2020.
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[PubMed: 31957011]
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[Full Text: https://doi.org/10.1111/cge.13706]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Rodenburg, R.
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<strong>Personal Communication.</strong>
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Nijmegen, The Netherlands 12/2/2020.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Shashi, V.
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<strong>Personal Communication.</strong>
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Durham, N.C. 6/11/2013.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Suzuki, T., Kwofie, M. A., Lennarz, W. J.
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<strong>Ngly1, a mouse gene encoding a deglycosylating enzyme implicated in proteasomal degradation: expression, genomic organization, and chromosomal mapping.</strong>
|
|
Biochem. Biophys. Res. Commun. 304: 326-332, 2003.
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[PubMed: 12711318]
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[Full Text: https://doi.org/10.1016/s0006-291x(03)00600-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Suzuki, T., Park, H., Hollingsworth, N. M., Sternglanz, R., Lennarz, W. J.
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<strong>PNG1, a yeast gene encoding a highly conserved peptide:N-glycanase.</strong>
|
|
J. Cell Biol. 149: 1039-1051, 2000.
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[PubMed: 10831608]
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[Full Text: https://doi.org/10.1083/jcb.149.5.1039]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Zhou, X., Zhao, G., Truglio, J. J., Wang, L., Li, G., Lennarz, W. J., Schindelin, H.
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<strong>Structural and biochemical studies of the C-terminal domain of mouse peptide-N-glycanase identify it as a mannose-binding module.</strong>
|
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Proc. Nat. Acad. Sci. 103: 17214-17219, 2006.
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[PubMed: 17088551]
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[Full Text: https://doi.org/10.1073/pnas.0602954103]
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</p>
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</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">
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Contributors:
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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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Bao Lige - updated : 01/04/2021<br>Hilary J. Vernon - updated : 12/18/2020<br>Ada Hamosh - updated : 05/07/2019<br>Cassandra L. Kniffin - updated : 3/26/2014<br>Nara Sobreira - updated : 6/12/2013
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</span>
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</div>
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</div>
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<br />
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<div 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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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 12/19/2006
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</span>
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</div>
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</div>
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Edit History:
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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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mgross : 06/27/2024<br>mgross : 06/27/2024<br>carol : 03/03/2022<br>mgross : 01/04/2021<br>carol : 12/21/2020<br>carol : 12/18/2020<br>alopez : 05/07/2019<br>carol : 08/17/2016<br>joanna : 07/28/2015<br>mcolton : 6/15/2015<br>mcolton : 10/7/2014<br>ckniffin : 4/2/2014<br>carol : 4/1/2014<br>mcolton : 3/31/2014<br>ckniffin : 3/26/2014<br>carol : 6/12/2013<br>carol : 6/12/2013<br>mgross : 12/19/2006
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