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<title>
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Entry
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- *153450 - LYSOZYME; LYZ
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- OMIM
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<p>
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<span class="h4">*153450</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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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</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/153450">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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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=ENSG00000090382;t=ENST00000261267" 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=4069" 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=153450" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000090382;t=ENST00000261267" 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_000239" 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_000239" 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=153450" 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=01085&isoform_id=01085_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/LYZ" 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/307140,307141,307142,847820,1335210,4379018,4557894,13278744,48428995,119617626,119617627,119617628,189053100,226201415,674274715,674277674" 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/P61626" 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=4069" 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=ENSG00000090382;t=ENST00000261267" 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=LYZ" 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=LYZ" 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+4069" 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/LYZ" 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:4069" 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/4069" 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=chr12&hgg_gene=ENST00000261267.7&hgg_start=69348381&hgg_end=69354234&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=153450[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=153450[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000090382" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=LYZ" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=LYZ" 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=LYZ" 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=LYZ&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/PA30503" 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:6740" 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/FBgn0004425.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/search?q=MGI:1924647 MGI:96897 MGI:96902" 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/LYZ#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/batch/summary?idType=MGI&ids=MGI:1924647 MGI:96897 MGI:96902" 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/4069/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=4069" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-020515-2" 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">
|
|
<div style="display: table-row">
|
|
<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:4069" 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=LYZ&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
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153450
|
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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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LYSOZYME; LYZ
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<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=LYZ" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">LYZ</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">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/12/608?start=-3&limit=10&highlight=608">12q15</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:69348381-69354234&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'})">12:69,348,381-69,354,234</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
Phenotype
|
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/608?start=-3&limit=10&highlight=608">
|
|
12q15
|
|
</a>
|
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</span>
|
|
</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Amyloidosis, hereditary systemic 5
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/620658"> 620658 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
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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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<p>Lysozyme (<a href="https://enzyme.expasy.org/EC/3.2.1.17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 3.2.1.17</a>) catalyzes the hydrolysis of certain mucopolysaccharides of bacterial cell walls. Specifically, it catalyzes the hydrolysis of the bacterial cell wall beta(1-4) glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine. It is found in spleen, lung, kidney, white blood cells, plasma, saliva, milk, and tears.</p>
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<p><a href="#24" class="mim-tip-reference" title="Yoshimura, K., Toibana, A., Nakahama, K. <strong>Human lysozyme: sequencing of a cDNA, and expression and secretion by Saccharomyces cerevisiae.</strong> Biochem. Biophys. Res. Commun. 150: 794-801, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2829884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2829884</a>] [<a href="https://doi.org/10.1016/0006-291x(88)90461-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2829884">Yoshimura et al. (1988)</a> isolated a cDNA encoding human lysozyme from a human placenta cDNA library. The 1.5-kb cDNA coded for a signal peptide consisting of 18 amino acids and for mature lysozyme. The amino acid sequence of the mature lysozyme, deduced from the nucleotide sequence, was identical to the published sequence. Human lysozyme has 130 amino acid residues and 4 disulfide bonds (<a href="#21" class="mim-tip-reference" title="Taniyama, Y., Kuroki, R., Omura, F., Seko, C., Kikuchi, M. <strong>Evidence for intramolecular disulfide bond shuffling in the folding of mutant human lysozyme.</strong> J. Biol. Chem. 266: 6456-6461, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2007594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2007594</a>]" pmid="2007594">Taniyama et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2829884+2007594" 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="#17" class="mim-tip-reference" title="Peters, C. W. B., Kruse, U., Pollwein, R., Grzeschik, K.-H., Sippel, A. E. <strong>The human lysozyme gene: sequence organization and chromosomal localization. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1059 only, 1989."None>Peters et al. (1989)</a> described the isolation of 2 overlapping genomic clones containing 25 kb of the human lysozyme gene region. They also isolated a full-length human lysozyme cDNA clone from a human placental cDNA library. They reported on the nucleotide sequence of the entire structural gene and the cDNA clone.</p>
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<p><a href="#2" class="mim-tip-reference" title="Canet, D., Sunde, M., Last, A. M., Miranker, A., Spencer, A., Robinson, C. V., Dobson, C. M. <strong>Mechanistic studies of the folding of human lysozyme and the origin of amyloidogenic behavior in its disease-related variants.</strong> Biochemistry 38: 6419-6427, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10350460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10350460</a>] [<a href="https://doi.org/10.1021/bi983037t" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10350460">Canet et al. (1999)</a> studied the unfolding and refolding properties of human lysozyme and 2 of its amyloidogenic variants, ile56 to thr and asp67 to his, by stopped-flow fluorescence and hydrogen exchange pulse labeling coupled with mass spectrometry. Their results suggested that the amyloidogenic nature of the lysozyme variants arises from a decrease in the stability of the native fold relative to partially folded intermediates. The origin of this instability was different in the 2 variants, being caused in one case primarily by a reduction in the folding rate and in the other by an increase in the unfolding rate. In both cases, this resulted in a low population of soluble partially folded species that can aggregate in a slow and controlled manner to form amyloid fibrils. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10350460" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Dumoulin, M., Last, A. M., Desmyter, A., Decanniere, K., Canet, D., Larsson, G., Spencer, A., Archer, D. B., Sasse, J., Muyldermans, S., Wyns, L., Redfield, C., Matagne, A., Robinson, C. V., Dobson, C. M. <strong>A camelid antibody fragment inhibits the formation of amyloid fibrils by human lysozyme.</strong> Nature 424: 783-788, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12917687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12917687</a>] [<a href="https://doi.org/10.1038/nature01870" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12917687">Dumoulin et al. (2003)</a> reported that a single-domain fragment of a camelid antibody raised against wildtype human lysozyme inhibited the in vitro aggregation of its amyloidogenic variant, D67H (<a href="#0002">153450.0002</a>). Structural studies revealed that the epitope includes neither the site of mutation nor most residues in the region of the protein structure that is destabilized by the mutation. Instead, the binding of the antibody fragment achieves its affect by restoring the structural cooperativity characteristic of the wildtype protein. <a href="#4" class="mim-tip-reference" title="Dumoulin, M., Last, A. M., Desmyter, A., Decanniere, K., Canet, D., Larsson, G., Spencer, A., Archer, D. B., Sasse, J., Muyldermans, S., Wyns, L., Redfield, C., Matagne, A., Robinson, C. V., Dobson, C. M. <strong>A camelid antibody fragment inhibits the formation of amyloid fibrils by human lysozyme.</strong> Nature 424: 783-788, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12917687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12917687</a>] [<a href="https://doi.org/10.1038/nature01870" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12917687">Dumoulin et al. (2003)</a> suggested that this appears to occur at least in part through the transmission of long-range conformational effects to the interface between the 2 structural domains of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12917687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using a panel of somatic cell hybrids, <a href="#17" class="mim-tip-reference" title="Peters, C. W. B., Kruse, U., Pollwein, R., Grzeschik, K.-H., Sippel, A. E. <strong>The human lysozyme gene: sequence organization and chromosomal localization. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1059 only, 1989."None>Peters et al. (1989)</a> assigned the lysozyme gene to human chromosome 12.</p>
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<div class="mim-changed mim-change"><p><a href="#20" class="mim-tip-reference" title="Stumpf, A. M. <strong>Personal Communication.</strong> Baltimore, Md. 1/17/2025."None>Stumpf (2025)</a> mapped the LYZ gene to chromosome 12q15 based on an alignment of the LYZ sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC004147" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC004147</a>) with the genomic sequence (GRCh38).</p></div>
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<p>In 2 unrelated English families with hereditary nonneuropathic systemic amyloidosis (AMYLD5; <a href="/entry/620658">620658</a>), <a href="#16" class="mim-tip-reference" title="Pepys, M. B., Hawkins, P. N., Booth, D. R., Vigushin, D. M., Tennent, G. A., Soutar, A. K., Totty, N., Nguyen, O., Blake, C. C. F., Terry, C. J., Feest, T. G., Zalin, A. M., Hsuan, J. J. <strong>Human lysozyme gene mutations cause hereditary systemic amyloidosis.</strong> Nature 362: 553-557, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8464497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8464497</a>] [<a href="https://doi.org/10.1038/362553a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8464497">Pepys et al. (1993)</a> identified heterozygous point mutations in the LYZ gene (I56T, <a href="#0001">153450.0001</a> and D67H, <a href="#0002">153450.0002</a>) that segregated with disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8464497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Gillmore, J. D., Booth, D. R., Madhoo, S., Pepys, M. B., Hawkins, P. N. <strong>Hereditary renal amyloidosis associated with variant lysozyme in a large English family.</strong> Nephrol. Dial. Transplant. 14: 2639-2644, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10534505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10534505</a>] [<a href="https://doi.org/10.1093/ndt/14.11.2639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10534505">Gillmore et al. (1999)</a> stated that the English family studied by them and found to be heterozygous for a D67H mutation in the LYZ gene was part of the kindred originally reported by <a href="#16" class="mim-tip-reference" title="Pepys, M. B., Hawkins, P. N., Booth, D. R., Vigushin, D. M., Tennent, G. A., Soutar, A. K., Totty, N., Nguyen, O., Blake, C. C. F., Terry, C. J., Feest, T. G., Zalin, A. M., Hsuan, J. J. <strong>Human lysozyme gene mutations cause hereditary systemic amyloidosis.</strong> Nature 362: 553-557, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8464497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8464497</a>] [<a href="https://doi.org/10.1038/362553a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8464497">Pepys et al. (1993)</a>. They further stated that the family reported by <a href="#13" class="mim-tip-reference" title="Harrison, R. F., Hawkins, P. N., Roche, W. R., MacMahon, R. F. T., Hubscher, S. G., Buckels, J. A. C. <strong>'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis.</strong> Gut 38: 151-152, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8566845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8566845</a>] [<a href="https://doi.org/10.1136/gut.38.1.151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8566845">Harrison et al. (1996)</a> also carried the D67H mutation but was apparently unrelated. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10534505+8464497+8566845" 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 affected members of a French family with autosomal dominant hereditary amyloidosis with early sicca syndrome and nephropathy leading to renal failure, <a href="#22" class="mim-tip-reference" title="Valleix, S., Drunat, S., Philit, J.-B., Adoue, D., Piette, J.-C., Droz, D., MacGregor, B., Canet, D., Delpech, M., Grateau, G. <strong>Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family.</strong> Kidney Int. 61: 907-912, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11849445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11849445</a>] [<a href="https://doi.org/10.1046/j.1523-1755.2002.00205.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11849445">Valleix et al. (2002)</a> identified a heterozygous missense mutation (W64R; <a href="#0003">153450.0003</a>) in the LYZ gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11849445" 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 affected members of an Italian Canadian family segregating autosomal dominant familial visceral amyloidosis, <a href="#23" class="mim-tip-reference" title="Yazaki, M., Farrell, S. A., Benson, M. D. <strong>A novel lysozyme mutation phe57ile associated with hereditary renal amyloidosis.</strong> Kidney Int. 63: 1652-1657, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12675840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12675840</a>] [<a href="https://doi.org/10.1046/j.1523-1755.2003.00904.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12675840">Yazaki et al. (2003)</a> identified a heterozygous missense mutation (F57I; <a href="#0004">153450.0004</a>) in the LYZ gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12675840" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 59-year-old woman from Piedmont, Italy, with hereditary lysozyme amyloidosis, mainly characterized by gastrointestinal involvement, <a href="#9" class="mim-tip-reference" title="Granel, B., Serratrice, J., Valleix, S., Grateau, G., Droz, D., Lafon, J., Sault, M.-C., Chaudier, B., Disdier, P., Laugier, R., Delpech, M., Weiller, P.-J. <strong>A family with gastrointestinal amyloidosis associated with variant lysozyme.</strong> Gastroenterology 123: 1346-1349, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12360495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12360495</a>] [<a href="https://doi.org/10.1053/gast.2002.36022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12360495">Granel et al. (2002)</a> identified heterozygosity for a W64R substitution in the LYZ gene (<a href="#0005">153450.0005</a>). <a href="#8" class="mim-tip-reference" title="Granel, B., Serratrice, J., Disdier, P., Weiller, P.-J., Valleix, S., Grateau, G., Droz, D. <strong>Underdiagnosed amyloidosis: amyloidosis of lysozyme variant. (Letter)</strong> Am. J. Med. 118: 321-323, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15745733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15745733</a>] [<a href="https://doi.org/10.1016/j.amjmed.2004.10.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15745733">Granel et al. (2005)</a> identified this same mutation in another woman from Piedmont, and <a href="#10" class="mim-tip-reference" title="Granel, B., Valleix, S., Serratrice, J., Cherin, P., Texeira, A., Disdier, P., Weiller, P.-J., Grateau, G. <strong>Lysozyme amyloidosis: report of 4 cases and a review of the literature.</strong> Medicine 85: 66-73, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16523055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16523055</a>] [<a href="https://doi.org/10.1097/01.md.0000200467.51816.6d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16523055">Granel et al. (2006)</a> identified it in an English man. The substitution resulted from a different nucleotide change than the W64R mutation found by <a href="#22" class="mim-tip-reference" title="Valleix, S., Drunat, S., Philit, J.-B., Adoue, D., Piette, J.-C., Droz, D., MacGregor, B., Canet, D., Delpech, M., Grateau, G. <strong>Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family.</strong> Kidney Int. 61: 907-912, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11849445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11849445</a>] [<a href="https://doi.org/10.1046/j.1523-1755.2002.00205.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11849445">Valleix et al. (2002)</a> (<a href="#0003">153450.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12360495+16523055+11849445+15745733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#18" class="mim-tip-reference" title="Prieur, D. J., Olson, H. M., Young, D. M. <strong>Lysozyme deficiency--an inherited disorder of rabbits.</strong> Am. J. Path. 77: 283-296, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4447131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4447131</a>]" pmid="4447131">Prieur et al. (1974)</a> described inherited lysozyme deficiency in rabbits. No abnormality of cartilage or bone was noted (<a href="#12" class="mim-tip-reference" title="Greenwald, R. A., Cantor, J. O., Prieur, D. J., Young, D. M. <strong>Composition of cartilage from lysozyme-deficient rabbits.</strong> Biochim. Biophys. Acta 385: 435-437, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1125267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1125267</a>] [<a href="https://doi.org/10.1016/0304-4165(75)90375-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1125267">Greenwald et al., 1975</a>). Older mutant rabbits showed increased susceptibility to infections, especially subcutaneous abscesses (<a href="#19" class="mim-tip-reference" title="Prieur, D. J. <strong>Personal Communication.</strong> Pullman, Washington 5/13/1975."None>Prieur, 1975</a>). <a href="#1" class="mim-tip-reference" title="Camara, V. M., Harding, J. W., Prieur, D. J. <strong>Inherited lysozyme deficiency in rabbits: the absence of a primary isozyme of lysozyme as the cause of the condition.</strong> Lab. Invest. 63: 544-550, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2232706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2232706</a>]" pmid="2232706">Camara et al. (1990)</a> identified 2 isozymes of rabbit lysozyme and showed that their distribution was tissue specific. Leukocytic and gastrointestinal isozymes were clearly distinguished, and a possible lymphoepithelial isozyme that resembled the gastrointestinal isozyme electrophoretically and chromatographically but not kinetically was demonstrated. Mutant, lysozyme-deficient rabbits completely lacked a detectable leukocytic isozyme but had gastrointestinal and lymphoepithelial isozymes indistinguishable from those of normal rabbits. By electrophoretic methods, the mutant rabbits were shown to lack a protein band corresponding to that of the leukocytic isozyme in normal rabbits. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2232706+4447131+1125267" 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>Alexander Fleming (1881-1955), of penicillin fame, discovered and named lysozyme. In a communication to the Royal Society, <a href="#6" class="mim-tip-reference" title="Fleming, A. <strong>On a remarkable bacteriolytic element found in tissues and secretions.</strong> Proc. Roy. Soc. Ser. B. 93: 306-317, 1922."None>Fleming (1922)</a> wrote: '...I wish to draw attention to a substance present in the tissues and secretions of the body, which is capable of rapidly dissolving certain bacteria. As this substance has properties akin to those of ferments I have called it a Lysozyme....' <a href="#5" class="mim-tip-reference" title="Fleming, A., Allison, V. D. <strong>Observations on a bacteriolytic substance ('lysozyme') found in secretions and tissues.</strong> Brit. J. Exp. Path. 3: 252-260, 1922."None>Fleming and Allison (1922)</a> demonstrated an unusually high concentration in cartilage, indeed the highest of any tissue. It resembles lactalbumin (<a href="/entry/149750">149750</a>) in structure. Human lysozyme has a molecular mass of 14,602 Da. <a href="#15" class="mim-tip-reference" title="Neufeld, E. L. <strong>Personal Communication.</strong> Bethesda, Maryland 1972."None>Neufeld (1972)</a> suggested that a genetic defect of lysozyme might underlie a skeletal dysplasia.</p>
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<p>In the proband, the last surviving affected member, of an English family (family 1) with hereditary nonneuropathic systemic amyloidosis (AMYLD5; <a href="/entry/620658">620658</a>), <a href="#16" class="mim-tip-reference" title="Pepys, M. B., Hawkins, P. N., Booth, D. R., Vigushin, D. M., Tennent, G. A., Soutar, A. K., Totty, N., Nguyen, O., Blake, C. C. F., Terry, C. J., Feest, T. G., Zalin, A. M., Hsuan, J. J. <strong>Human lysozyme gene mutations cause hereditary systemic amyloidosis.</strong> Nature 362: 553-557, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8464497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8464497</a>] [<a href="https://doi.org/10.1038/362553a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8464497">Pepys et al. (1993)</a> identified a heterozygous T-to-C transition in exon 2 of the LYZ gene that resulted in an ile56-to-thr (I56T) substitution. An unaffected family member was shown to be homozygous for the wildtype sequence. This family had previously been described by <a href="#25" class="mim-tip-reference" title="Zalin, A. M., Jones, S., Fitch, N. J. S., Ramsden, D. B. <strong>Familial nephropathic non-neuropathic amyloidosis: clinical features, immunohistochemistry and chemistry.</strong> Quart. J. Med. 81: 945-956, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1808634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1808634</a>]" pmid="1808634">Zalin et al. (1991)</a>, who had incorrectly reported that the amyloid deposits contained apolipoprotein A-I (<a href="/entry/107680">107680</a>), a previously known cause of renal amyloidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8464497+1808634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 affected members of an English family (family 2) with hereditary nonneuropathic systemic amyloidosis (AMYLD5; <a href="/entry/620658">620658</a>), <a href="#16" class="mim-tip-reference" title="Pepys, M. B., Hawkins, P. N., Booth, D. R., Vigushin, D. M., Tennent, G. A., Soutar, A. K., Totty, N., Nguyen, O., Blake, C. C. F., Terry, C. J., Feest, T. G., Zalin, A. M., Hsuan, J. J. <strong>Human lysozyme gene mutations cause hereditary systemic amyloidosis.</strong> Nature 362: 553-557, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8464497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8464497</a>] [<a href="https://doi.org/10.1038/362553a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8464497">Pepys et al. (1993)</a> identified a heterozygous G-to-G transversion in exon 2 of the lysozyme gene, resulting in an asp67-to-his (D67H) substitution. Four unaffected members were homozygous for the wildtype sequence. The proband of this family had been reported by <a href="#14" class="mim-tip-reference" title="Lanham, J. G., Meltzer, M. L., de Beer, F. C., Hughes, G. R. V., Pepys, M. B. <strong>Familial amyloidosis of Ostertag.</strong> Quart. J. Med. 51: 25-32, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7111672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7111672</a>]" pmid="7111672">Lanham et al. (1982)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7111672+8464497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Gillmore, J. D., Booth, D. R., Madhoo, S., Pepys, M. B., Hawkins, P. N. <strong>Hereditary renal amyloidosis associated with variant lysozyme in a large English family.</strong> Nephrol. Dial. Transplant. 14: 2639-2644, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10534505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10534505</a>] [<a href="https://doi.org/10.1093/ndt/14.11.2639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10534505">Gillmore et al. (1999)</a> studied an English family that was part of the kindred originally reported by <a href="#16" class="mim-tip-reference" title="Pepys, M. B., Hawkins, P. N., Booth, D. R., Vigushin, D. M., Tennent, G. A., Soutar, A. K., Totty, N., Nguyen, O., Blake, C. C. F., Terry, C. J., Feest, T. G., Zalin, A. M., Hsuan, J. J. <strong>Human lysozyme gene mutations cause hereditary systemic amyloidosis.</strong> Nature 362: 553-557, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8464497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8464497</a>] [<a href="https://doi.org/10.1038/362553a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8464497">Pepys et al. (1993)</a>, and confirmed the D67H mutation. Affected members in earlier generations presented with renal involvement, frequently developed complications due to gastrointestinal amyloid, and died before age 60 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10534505+8464497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Gillmore, J. D., Booth, D. R., Madhoo, S., Pepys, M. B., Hawkins, P. N. <strong>Hereditary renal amyloidosis associated with variant lysozyme in a large English family.</strong> Nephrol. Dial. Transplant. 14: 2639-2644, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10534505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10534505</a>] [<a href="https://doi.org/10.1093/ndt/14.11.2639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10534505">Gillmore et al. (1999)</a> reported that a D67H mutation in the LYZ gene was present in affected members of the family reported by <a href="#13" class="mim-tip-reference" title="Harrison, R. F., Hawkins, P. N., Roche, W. R., MacMahon, R. F. T., Hubscher, S. G., Buckels, J. A. C. <strong>'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis.</strong> Gut 38: 151-152, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8566845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8566845</a>] [<a href="https://doi.org/10.1136/gut.38.1.151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8566845">Harrison et al. (1996)</a>, in which spontaneous hepatic hemorrhage with rupture of the liver occurred. <a href="#7" class="mim-tip-reference" title="Gillmore, J. D., Booth, D. R., Madhoo, S., Pepys, M. B., Hawkins, P. N. <strong>Hereditary renal amyloidosis associated with variant lysozyme in a large English family.</strong> Nephrol. Dial. Transplant. 14: 2639-2644, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10534505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10534505</a>] [<a href="https://doi.org/10.1093/ndt/14.11.2639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10534505">Gillmore et al. (1999)</a> stated that the family reported by <a href="#13" class="mim-tip-reference" title="Harrison, R. F., Hawkins, P. N., Roche, W. R., MacMahon, R. F. T., Hubscher, S. G., Buckels, J. A. C. <strong>'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis.</strong> Gut 38: 151-152, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8566845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8566845</a>] [<a href="https://doi.org/10.1136/gut.38.1.151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8566845">Harrison et al. (1996)</a> and family 2 reported by <a href="#16" class="mim-tip-reference" title="Pepys, M. B., Hawkins, P. N., Booth, D. R., Vigushin, D. M., Tennent, G. A., Soutar, A. K., Totty, N., Nguyen, O., Blake, C. C. F., Terry, C. J., Feest, T. G., Zalin, A. M., Hsuan, J. J. <strong>Human lysozyme gene mutations cause hereditary systemic amyloidosis.</strong> Nature 362: 553-557, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8464497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8464497</a>] [<a href="https://doi.org/10.1038/362553a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8464497">Pepys et al. (1993)</a> were unrelated. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10534505+8464497+8566845" 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">rs387906536 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906536;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=rs387906536" 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=rs387906536" 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=RCV000015452 OR RCV001509432" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015452, RCV001509432" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015452...</a>
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<p>In affected members of a French family with autosomal dominant hereditary amyloidosis (AMYLD5; <a href="/entry/620658">620658</a>), <a href="#22" class="mim-tip-reference" title="Valleix, S., Drunat, S., Philit, J.-B., Adoue, D., Piette, J.-C., Droz, D., MacGregor, B., Canet, D., Delpech, M., Grateau, G. <strong>Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family.</strong> Kidney Int. 61: 907-912, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11849445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11849445</a>] [<a href="https://doi.org/10.1046/j.1523-1755.2002.00205.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11849445">Valleix et al. (2002)</a> identified a T-to-C transition in exon 2 of the LYZ gene, resulting in a tryptophan-to-arginine substitution at codon 64 (W64R). The mutation was not found in 2 unaffected family members or in 80 healthy unrelated individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11849445" 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">rs121913549 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913549;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=rs121913549" 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=rs121913549" 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 Canadian family segregating autosomal dominant familial visceral amyloidosis (AMYLD5; <a href="/entry/620658">620658</a>), <a href="#23" class="mim-tip-reference" title="Yazaki, M., Farrell, S. A., Benson, M. D. <strong>A novel lysozyme mutation phe57ile associated with hereditary renal amyloidosis.</strong> Kidney Int. 63: 1652-1657, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12675840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12675840</a>] [<a href="https://doi.org/10.1046/j.1523-1755.2003.00904.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12675840">Yazaki et al. (2003)</a> identified a T-to-A transversion in exon 2 of the LYZ gene, resulting in a phe-to-ile substitution at residue 57 (F57I). The proband developed renal failure at the age of 42, but a younger sister and daughter also had renal amyloidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12675840" 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">rs387906536 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906536;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=rs387906536" 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=rs387906536" 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=RCV000015454 OR RCV003556025" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015454, RCV003556025" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015454...</a>
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<p>In a 59-year-old woman from Piedmont, Italy, with hereditary lysozyme amyloidosis (AMYLD5; <a href="/entry/620658">620658</a>), characterized mainly by gastrointestinal involvement, <a href="#9" class="mim-tip-reference" title="Granel, B., Serratrice, J., Valleix, S., Grateau, G., Droz, D., Lafon, J., Sault, M.-C., Chaudier, B., Disdier, P., Laugier, R., Delpech, M., Weiller, P.-J. <strong>A family with gastrointestinal amyloidosis associated with variant lysozyme.</strong> Gastroenterology 123: 1346-1349, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12360495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12360495</a>] [<a href="https://doi.org/10.1053/gast.2002.36022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12360495">Granel et al. (2002)</a> identified heterozygosity for a T-to-A transition in the LYZ gene, resulting in a W64R substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12360495" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 62-year-old woman from Piedmont, Italy, who was presumably unrelated to the patient reported by <a href="#9" class="mim-tip-reference" title="Granel, B., Serratrice, J., Valleix, S., Grateau, G., Droz, D., Lafon, J., Sault, M.-C., Chaudier, B., Disdier, P., Laugier, R., Delpech, M., Weiller, P.-J. <strong>A family with gastrointestinal amyloidosis associated with variant lysozyme.</strong> Gastroenterology 123: 1346-1349, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12360495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12360495</a>] [<a href="https://doi.org/10.1053/gast.2002.36022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12360495">Granel et al. (2002)</a>, <a href="#8" class="mim-tip-reference" title="Granel, B., Serratrice, J., Disdier, P., Weiller, P.-J., Valleix, S., Grateau, G., Droz, D. <strong>Underdiagnosed amyloidosis: amyloidosis of lysozyme variant. (Letter)</strong> Am. J. Med. 118: 321-323, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15745733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15745733</a>] [<a href="https://doi.org/10.1016/j.amjmed.2004.10.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15745733">Granel et al. (2005)</a> identified the same T-to-A mutation leading to the W64R substitution. The patient was diagnosed as having systemic digestive and 'medullar' amyloidosis. <a href="#11" class="mim-tip-reference" title="Grateau, G. <strong>Personal Communication.</strong> Paris, France 1/16/2006."None>Grateau (2006)</a> stated that the term 'medullar' referred to involvement of the bone marrow. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12360495+15745733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 33-year-old English man with lysozyme amyloidosis, <a href="#10" class="mim-tip-reference" title="Granel, B., Valleix, S., Serratrice, J., Cherin, P., Texeira, A., Disdier, P., Weiller, P.-J., Grateau, G. <strong>Lysozyme amyloidosis: report of 4 cases and a review of the literature.</strong> Medicine 85: 66-73, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16523055/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16523055</a>] [<a href="https://doi.org/10.1097/01.md.0000200467.51816.6d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16523055">Granel et al. (2006)</a> identified the same T-to-A mutation. This patient had a dramatic bleeding episode due to rupture of abdominal lymph nodes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16523055" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Dayhoff1972" class="mim-tip-reference" title="Dayhoff, M. O. <strong>Lactalbumin and Lysozyme. Atlas of Protein Sequence and Structure. Vol. 5.</strong> Washington: National Biomedical Research Foundation (pub.) 1972. Pp. D133-D140.">Dayhoff (1972)</a>
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<strong>Inherited lysozyme deficiency in rabbits: the absence of a primary isozyme of lysozyme as the cause of the condition.</strong>
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Lab. Invest. 63: 544-550, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2232706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2232706</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2232706" 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/10.1046/j.1523-1755.2003.00904.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="24" class="mim-anchor"></a>
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<a id="Yoshimura1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yoshimura, K., Toibana, A., Nakahama, K.
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<strong>Human lysozyme: sequencing of a cDNA, and expression and secretion by Saccharomyces cerevisiae.</strong>
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Biochem. Biophys. Res. Commun. 150: 794-801, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2829884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2829884</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2829884" 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/10.1016/0006-291x(88)90461-5" target="_blank">Full Text</a>]
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</p>
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<a id="25" class="mim-anchor"></a>
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<a id="Zalin1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zalin, A. M., Jones, S., Fitch, N. J. S., Ramsden, D. B.
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<strong>Familial nephropathic non-neuropathic amyloidosis: clinical features, immunohistochemistry and chemistry.</strong>
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Quart. J. Med. 81: 945-956, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1808634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1808634</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1808634" 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="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Anne M. Stumpf - updated : 01/17/2025
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 1/31/2006<br>Victor A. McKusick - updated : 1/9/2006<br>Victor A. McKusick - updated : 4/21/2005<br>Victor A. McKusick - updated : 3/10/2005<br>Ada Hamosh - updated : 8/26/2003<br>Victor A. McKusick - updated : 1/19/2000<br>Victor A. McKusick - updated : 10/26/1999
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</span>
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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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<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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Victor A. McKusick : 6/2/1986
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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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<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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alopez : 01/17/2025
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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alopez : 05/17/2024<br>carol : 10/13/2016<br>alopez : 11/18/2015<br>terry : 9/8/2010<br>carol : 1/8/2009<br>carol : 1/31/2006<br>carol : 1/31/2006<br>terry : 1/9/2006<br>tkritzer : 4/27/2005<br>terry : 4/21/2005<br>alopez : 3/24/2005<br>wwang : 3/16/2005<br>terry : 3/10/2005<br>terry : 3/9/2005<br>alopez : 8/26/2003<br>terry : 8/26/2003<br>mcapotos : 1/28/2000<br>mcapotos : 1/28/2000<br>mcapotos : 1/28/2000<br>mcapotos : 1/24/2000<br>terry : 1/19/2000<br>carol : 11/3/1999<br>terry : 10/26/1999<br>mark : 6/7/1996<br>davew : 7/13/1994<br>warfield : 4/21/1994<br>carol : 11/24/1993<br>carol : 5/21/1993<br>carol : 5/17/1993<br>carol : 5/6/1993
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<span class="mim-font">
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<strong>*</strong> 153450
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<h3>
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LYSOZYME; LYZ
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<br />
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: LYZ</em></strong>
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</span>
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<strong>
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<em>
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Cytogenetic location: 12q15
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:69,348,381-69,354,234 </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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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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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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<span class="mim-font">
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12q15
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<span class="mim-font">
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Amyloidosis, hereditary systemic 5
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<td>
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<span class="mim-font">
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620658
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<span class="mim-font">
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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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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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<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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</div>
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<span class="mim-text-font">
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<p>Lysozyme (EC 3.2.1.17) catalyzes the hydrolysis of certain mucopolysaccharides of bacterial cell walls. Specifically, it catalyzes the hydrolysis of the bacterial cell wall beta(1-4) glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine. It is found in spleen, lung, kidney, white blood cells, plasma, saliva, milk, and tears.</p>
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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>Yoshimura et al. (1988) isolated a cDNA encoding human lysozyme from a human placenta cDNA library. The 1.5-kb cDNA coded for a signal peptide consisting of 18 amino acids and for mature lysozyme. The amino acid sequence of the mature lysozyme, deduced from the nucleotide sequence, was identical to the published sequence. Human lysozyme has 130 amino acid residues and 4 disulfide bonds (Taniyama et al., 1991). </p><p>Peters et al. (1989) described the isolation of 2 overlapping genomic clones containing 25 kb of the human lysozyme gene region. They also isolated a full-length human lysozyme cDNA clone from a human placental cDNA library. They reported on the nucleotide sequence of the entire structural gene and the cDNA clone.</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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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Canet et al. (1999) studied the unfolding and refolding properties of human lysozyme and 2 of its amyloidogenic variants, ile56 to thr and asp67 to his, by stopped-flow fluorescence and hydrogen exchange pulse labeling coupled with mass spectrometry. Their results suggested that the amyloidogenic nature of the lysozyme variants arises from a decrease in the stability of the native fold relative to partially folded intermediates. The origin of this instability was different in the 2 variants, being caused in one case primarily by a reduction in the folding rate and in the other by an increase in the unfolding rate. In both cases, this resulted in a low population of soluble partially folded species that can aggregate in a slow and controlled manner to form amyloid fibrils. </p><p>Dumoulin et al. (2003) reported that a single-domain fragment of a camelid antibody raised against wildtype human lysozyme inhibited the in vitro aggregation of its amyloidogenic variant, D67H (153450.0002). Structural studies revealed that the epitope includes neither the site of mutation nor most residues in the region of the protein structure that is destabilized by the mutation. Instead, the binding of the antibody fragment achieves its affect by restoring the structural cooperativity characteristic of the wildtype protein. Dumoulin et al. (2003) suggested that this appears to occur at least in part through the transmission of long-range conformational effects to the interface between the 2 structural domains of the protein. </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>Using a panel of somatic cell hybrids, Peters et al. (1989) assigned the lysozyme gene to human chromosome 12.</p><p>Stumpf (2025) mapped the LYZ gene to chromosome 12q15 based on an alignment of the LYZ sequence (GenBank BC004147) with the genomic sequence (GRCh38).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 2 unrelated English families with hereditary nonneuropathic systemic amyloidosis (AMYLD5; 620658), Pepys et al. (1993) identified heterozygous point mutations in the LYZ gene (I56T, 153450.0001 and D67H, 153450.0002) that segregated with disease. </p><p>Gillmore et al. (1999) stated that the English family studied by them and found to be heterozygous for a D67H mutation in the LYZ gene was part of the kindred originally reported by Pepys et al. (1993). They further stated that the family reported by Harrison et al. (1996) also carried the D67H mutation but was apparently unrelated. </p><p>In affected members of a French family with autosomal dominant hereditary amyloidosis with early sicca syndrome and nephropathy leading to renal failure, Valleix et al. (2002) identified a heterozygous missense mutation (W64R; 153450.0003) in the LYZ gene. </p><p>In affected members of an Italian Canadian family segregating autosomal dominant familial visceral amyloidosis, Yazaki et al. (2003) identified a heterozygous missense mutation (F57I; 153450.0004) in the LYZ gene. </p><p>In a 59-year-old woman from Piedmont, Italy, with hereditary lysozyme amyloidosis, mainly characterized by gastrointestinal involvement, Granel et al. (2002) identified heterozygosity for a W64R substitution in the LYZ gene (153450.0005). Granel et al. (2005) identified this same mutation in another woman from Piedmont, and Granel et al. (2006) identified it in an English man. The substitution resulted from a different nucleotide change than the W64R mutation found by Valleix et al. (2002) (153450.0003). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Prieur et al. (1974) described inherited lysozyme deficiency in rabbits. No abnormality of cartilage or bone was noted (Greenwald et al., 1975). Older mutant rabbits showed increased susceptibility to infections, especially subcutaneous abscesses (Prieur, 1975). Camara et al. (1990) identified 2 isozymes of rabbit lysozyme and showed that their distribution was tissue specific. Leukocytic and gastrointestinal isozymes were clearly distinguished, and a possible lymphoepithelial isozyme that resembled the gastrointestinal isozyme electrophoretically and chromatographically but not kinetically was demonstrated. Mutant, lysozyme-deficient rabbits completely lacked a detectable leukocytic isozyme but had gastrointestinal and lymphoepithelial isozymes indistinguishable from those of normal rabbits. By electrophoretic methods, the mutant rabbits were shown to lack a protein band corresponding to that of the leukocytic isozyme in normal rabbits. </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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<h4>
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<span class="mim-font">
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<strong>History</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>Alexander Fleming (1881-1955), of penicillin fame, discovered and named lysozyme. In a communication to the Royal Society, Fleming (1922) wrote: '...I wish to draw attention to a substance present in the tissues and secretions of the body, which is capable of rapidly dissolving certain bacteria. As this substance has properties akin to those of ferments I have called it a Lysozyme....' Fleming and Allison (1922) demonstrated an unusually high concentration in cartilage, indeed the highest of any tissue. It resembles lactalbumin (149750) in structure. Human lysozyme has a molecular mass of 14,602 Da. Neufeld (1972) suggested that a genetic defect of lysozyme might underlie a skeletal dysplasia.</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>ALLELIC VARIANTS</strong>
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</span>
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<strong>5 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0001 AMYLOIDOSIS, HEREDITARY SYSTEMIC 5</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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LYZ, ILE56THR
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<br />
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SNP: rs121913547,
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ClinVar: RCV004555833
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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 the proband, the last surviving affected member, of an English family (family 1) with hereditary nonneuropathic systemic amyloidosis (AMYLD5; 620658), Pepys et al. (1993) identified a heterozygous T-to-C transition in exon 2 of the LYZ gene that resulted in an ile56-to-thr (I56T) substitution. An unaffected family member was shown to be homozygous for the wildtype sequence. This family had previously been described by Zalin et al. (1991), who had incorrectly reported that the amyloid deposits contained apolipoprotein A-I (107680), a previously known cause of renal amyloidosis. </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">
|
|
<strong>.0002 AMYLOIDOSIS, HEREDITARY SYSTEMIC 5</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
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LYZ, ASP67HIS
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<br />
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|
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SNP: rs387906535,
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|
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ClinVar: RCV004555834
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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 2 affected members of an English family (family 2) with hereditary nonneuropathic systemic amyloidosis (AMYLD5; 620658), Pepys et al. (1993) identified a heterozygous G-to-G transversion in exon 2 of the lysozyme gene, resulting in an asp67-to-his (D67H) substitution. Four unaffected members were homozygous for the wildtype sequence. The proband of this family had been reported by Lanham et al. (1982). </p><p>Gillmore et al. (1999) studied an English family that was part of the kindred originally reported by Pepys et al. (1993), and confirmed the D67H mutation. Affected members in earlier generations presented with renal involvement, frequently developed complications due to gastrointestinal amyloid, and died before age 60 years. </p><p>Gillmore et al. (1999) reported that a D67H mutation in the LYZ gene was present in affected members of the family reported by Harrison et al. (1996), in which spontaneous hepatic hemorrhage with rupture of the liver occurred. Gillmore et al. (1999) stated that the family reported by Harrison et al. (1996) and family 2 reported by Pepys et al. (1993) were unrelated. </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>.0003 AMYLOIDOSIS, HEREDITARY SYSTEMIC 5</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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LYZ, TRP64ARG, T-C
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<br />
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SNP: rs387906536,
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ClinVar: RCV000015452, RCV001509432
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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 affected members of a French family with autosomal dominant hereditary amyloidosis (AMYLD5; 620658), Valleix et al. (2002) identified a T-to-C transition in exon 2 of the LYZ gene, resulting in a tryptophan-to-arginine substitution at codon 64 (W64R). The mutation was not found in 2 unaffected family members or in 80 healthy unrelated individuals. </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>.0004 AMYLOIDOSIS, HEREDITARY SYSTEMIC 5</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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LYZ, PHE57ILE
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<br />
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SNP: rs121913549,
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ClinVar: RCV004555835
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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 an Italian Canadian family segregating autosomal dominant familial visceral amyloidosis (AMYLD5; 620658), Yazaki et al. (2003) identified a T-to-A transversion in exon 2 of the LYZ gene, resulting in a phe-to-ile substitution at residue 57 (F57I). The proband developed renal failure at the age of 42, but a younger sister and daughter also had renal amyloidosis. </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 AMYLOIDOSIS, HEREDITARY SYSTEMIC 5</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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LYZ, TRP64ARG, T-A
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<br />
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SNP: rs387906536,
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ClinVar: RCV000015454, RCV003556025
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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 59-year-old woman from Piedmont, Italy, with hereditary lysozyme amyloidosis (AMYLD5; 620658), characterized mainly by gastrointestinal involvement, Granel et al. (2002) identified heterozygosity for a T-to-A transition in the LYZ gene, resulting in a W64R substitution. </p><p>In a 62-year-old woman from Piedmont, Italy, who was presumably unrelated to the patient reported by Granel et al. (2002), Granel et al. (2005) identified the same T-to-A mutation leading to the W64R substitution. The patient was diagnosed as having systemic digestive and 'medullar' amyloidosis. Grateau (2006) stated that the term 'medullar' referred to involvement of the bone marrow. </p><p>In a 33-year-old English man with lysozyme amyloidosis, Granel et al. (2006) identified the same T-to-A mutation. This patient had a dramatic bleeding episode due to rupture of abdominal lymph nodes. </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">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Dayhoff (1972)
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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>REFERENCES</strong>
|
|
</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>
|
|
<p class="mim-text-font">
|
|
Camara, V. M., Harding, J. W., Prieur, D. J.
|
|
<strong>Inherited lysozyme deficiency in rabbits: the absence of a primary isozyme of lysozyme as the cause of the condition.</strong>
|
|
Lab. Invest. 63: 544-550, 1990.
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|
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[PubMed: 2232706]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Canet, D., Sunde, M., Last, A. M., Miranker, A., Spencer, A., Robinson, C. V., Dobson, C. M.
|
|
<strong>Mechanistic studies of the folding of human lysozyme and the origin of amyloidogenic behavior in its disease-related variants.</strong>
|
|
Biochemistry 38: 6419-6427, 1999.
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[PubMed: 10350460]
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[Full Text: https://doi.org/10.1021/bi983037t]
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</li>
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<li>
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<p class="mim-text-font">
|
|
Dayhoff, M. O.
|
|
<strong>Lactalbumin and Lysozyme. Atlas of Protein Sequence and Structure. Vol. 5.</strong>
|
|
Washington: National Biomedical Research Foundation (pub.) 1972. Pp. D133-D140.
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</p>
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<li>
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<p class="mim-text-font">
|
|
Dumoulin, M., Last, A. M., Desmyter, A., Decanniere, K., Canet, D., Larsson, G., Spencer, A., Archer, D. B., Sasse, J., Muyldermans, S., Wyns, L., Redfield, C., Matagne, A., Robinson, C. V., Dobson, C. M.
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<strong>A camelid antibody fragment inhibits the formation of amyloid fibrils by human lysozyme.</strong>
|
|
Nature 424: 783-788, 2003.
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[PubMed: 12917687]
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[Full Text: https://doi.org/10.1038/nature01870]
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</p>
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<li>
|
|
<p class="mim-text-font">
|
|
Fleming, A., Allison, V. D.
|
|
<strong>Observations on a bacteriolytic substance ('lysozyme') found in secretions and tissues.</strong>
|
|
Brit. J. Exp. Path. 3: 252-260, 1922.
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|
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Fleming, A.
|
|
<strong>On a remarkable bacteriolytic element found in tissues and secretions.</strong>
|
|
Proc. Roy. Soc. Ser. B. 93: 306-317, 1922.
|
|
|
|
</p>
|
|
</li>
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|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Gillmore, J. D., Booth, D. R., Madhoo, S., Pepys, M. B., Hawkins, P. N.
|
|
<strong>Hereditary renal amyloidosis associated with variant lysozyme in a large English family.</strong>
|
|
Nephrol. Dial. Transplant. 14: 2639-2644, 1999.
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[PubMed: 10534505]
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[Full Text: https://doi.org/10.1093/ndt/14.11.2639]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Granel, B., Serratrice, J., Disdier, P., Weiller, P.-J., Valleix, S., Grateau, G., Droz, D.
|
|
<strong>Underdiagnosed amyloidosis: amyloidosis of lysozyme variant. (Letter)</strong>
|
|
Am. J. Med. 118: 321-323, 2005.
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[PubMed: 15745733]
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[Full Text: https://doi.org/10.1016/j.amjmed.2004.10.022]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Granel, B., Serratrice, J., Valleix, S., Grateau, G., Droz, D., Lafon, J., Sault, M.-C., Chaudier, B., Disdier, P., Laugier, R., Delpech, M., Weiller, P.-J.
|
|
<strong>A family with gastrointestinal amyloidosis associated with variant lysozyme.</strong>
|
|
Gastroenterology 123: 1346-1349, 2002.
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|
|
[PubMed: 12360495]
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[Full Text: https://doi.org/10.1053/gast.2002.36022]
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</p>
|
|
</li>
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Granel, B., Valleix, S., Serratrice, J., Cherin, P., Texeira, A., Disdier, P., Weiller, P.-J., Grateau, G.
|
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<strong>Lysozyme amyloidosis: report of 4 cases and a review of the literature.</strong>
|
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Medicine 85: 66-73, 2006.
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[PubMed: 16523055]
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[Full Text: https://doi.org/10.1097/01.md.0000200467.51816.6d]
|
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Grateau, G.
|
|
<strong>Personal Communication.</strong>
|
|
Paris, France 1/16/2006.
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|
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Greenwald, R. A., Cantor, J. O., Prieur, D. J., Young, D. M.
|
|
<strong>Composition of cartilage from lysozyme-deficient rabbits.</strong>
|
|
Biochim. Biophys. Acta 385: 435-437, 1975.
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|
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|
|
[PubMed: 1125267]
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|
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|
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[Full Text: https://doi.org/10.1016/0304-4165(75)90375-x]
|
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Harrison, R. F., Hawkins, P. N., Roche, W. R., MacMahon, R. F. T., Hubscher, S. G., Buckels, J. A. C.
|
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<strong>'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis.</strong>
|
|
Gut 38: 151-152, 1996.
|
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|
|
|
|
[PubMed: 8566845]
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|
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|
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[Full Text: https://doi.org/10.1136/gut.38.1.151]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Lanham, J. G., Meltzer, M. L., de Beer, F. C., Hughes, G. R. V., Pepys, M. B.
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<strong>Familial amyloidosis of Ostertag.</strong>
|
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Quart. J. Med. 51: 25-32, 1982.
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[PubMed: 7111672]
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</p>
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<li>
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<p class="mim-text-font">
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Neufeld, E. L.
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<strong>Personal Communication.</strong>
|
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Bethesda, Maryland 1972.
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|
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</p>
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<li>
|
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<p class="mim-text-font">
|
|
Pepys, M. B., Hawkins, P. N., Booth, D. R., Vigushin, D. M., Tennent, G. A., Soutar, A. K., Totty, N., Nguyen, O., Blake, C. C. F., Terry, C. J., Feest, T. G., Zalin, A. M., Hsuan, J. J.
|
|
<strong>Human lysozyme gene mutations cause hereditary systemic amyloidosis.</strong>
|
|
Nature 362: 553-557, 1993.
|
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|
|
[PubMed: 8464497]
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|
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|
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[Full Text: https://doi.org/10.1038/362553a0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Peters, C. W. B., Kruse, U., Pollwein, R., Grzeschik, K.-H., Sippel, A. E.
|
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<strong>The human lysozyme gene: sequence organization and chromosomal localization. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 1059 only, 1989.
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|
|
</p>
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|
</li>
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<li>
|
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<p class="mim-text-font">
|
|
Prieur, D. J., Olson, H. M., Young, D. M.
|
|
<strong>Lysozyme deficiency--an inherited disorder of rabbits.</strong>
|
|
Am. J. Path. 77: 283-296, 1974.
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|
|
[PubMed: 4447131]
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|
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Prieur, D. J.
|
|
<strong>Personal Communication.</strong>
|
|
Pullman, Washington 5/13/1975.
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|
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</p>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Stumpf, A. M.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 1/17/2025.
|
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|
|
</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Taniyama, Y., Kuroki, R., Omura, F., Seko, C., Kikuchi, M.
|
|
<strong>Evidence for intramolecular disulfide bond shuffling in the folding of mutant human lysozyme.</strong>
|
|
J. Biol. Chem. 266: 6456-6461, 1991.
|
|
|
|
|
|
[PubMed: 2007594]
|
|
|
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|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Valleix, S., Drunat, S., Philit, J.-B., Adoue, D., Piette, J.-C., Droz, D., MacGregor, B., Canet, D., Delpech, M., Grateau, G.
|
|
<strong>Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family.</strong>
|
|
Kidney Int. 61: 907-912, 2002.
|
|
|
|
|
|
[PubMed: 11849445]
|
|
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|
|
[Full Text: https://doi.org/10.1046/j.1523-1755.2002.00205.x]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Yazaki, M., Farrell, S. A., Benson, M. D.
|
|
<strong>A novel lysozyme mutation phe57ile associated with hereditary renal amyloidosis.</strong>
|
|
Kidney Int. 63: 1652-1657, 2003.
|
|
|
|
|
|
[PubMed: 12675840]
|
|
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|
|
[Full Text: https://doi.org/10.1046/j.1523-1755.2003.00904.x]
|
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|
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</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Yoshimura, K., Toibana, A., Nakahama, K.
|
|
<strong>Human lysozyme: sequencing of a cDNA, and expression and secretion by Saccharomyces cerevisiae.</strong>
|
|
Biochem. Biophys. Res. Commun. 150: 794-801, 1988.
|
|
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|
|
|
[PubMed: 2829884]
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|
|
[Full Text: https://doi.org/10.1016/0006-291x(88)90461-5]
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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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Zalin, A. M., Jones, S., Fitch, N. J. S., Ramsden, D. B.
|
|
<strong>Familial nephropathic non-neuropathic amyloidosis: clinical features, immunohistochemistry and chemistry.</strong>
|
|
Quart. J. Med. 81: 945-956, 1991.
|
|
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|
|
|
[PubMed: 1808634]
|
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</p>
|
|
</li>
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</ol>
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<div>
|
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<br />
|
|
</div>
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</div>
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</div>
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Anne M. Stumpf - updated : 01/17/2025<br>Victor A. McKusick - updated : 1/31/2006<br>Victor A. McKusick - updated : 1/9/2006<br>Victor A. McKusick - updated : 4/21/2005<br>Victor A. McKusick - updated : 3/10/2005<br>Ada Hamosh - updated : 8/26/2003<br>Victor A. McKusick - updated : 1/19/2000<br>Victor A. McKusick - updated : 10/26/1999
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Victor A. McKusick : 6/2/1986
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