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<title>
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Entry
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- *109700 - BETA-2-MICROGLOBULIN; B2M
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- OMIM
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</ul>
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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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="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="row">
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<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
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<div class="form-group">
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<div class="input-group">
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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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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<li role="separator" class="divider"></li>
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<li>
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<a href="/history"> Search History </a>
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</ul>
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</div>
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</form>
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<div class="row">
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<p />
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</div>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*109700</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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</li>
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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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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</li>
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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>
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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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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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/109700">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=ENSG00000166710;t=ENST00000648006" 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=567" 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=109700" 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=ENSG00000166710;t=ENST00000648006" 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_004048,XM_005254549" 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_004048" 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=109700" 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=00189&isoform_id=00189_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/B2M" 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/34616,179318,265222,4038733,4262087,4262088,4757826,5725512,9956065,21619744,27763813,40787843,48146249,48428791,77702078,114319011,114319013,114319049,119597682,119597683,119597684,189055141,194382826,312022494,530406197,549057814,576541450,2462490524,2462545169" 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/P61769" 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=567" 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=ENSG00000166710;t=ENST00000648006" 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=B2M" 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=B2M" 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+567" 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/B2M" 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:567" 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/567" 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=chr15&hgg_gene=ENST00000648006.3&hgg_start=44711517&hgg_end=44718145&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:914" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=109700[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=109700[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/ENSG00000166710" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=B2M" 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=B2M" 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=B2M&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/PA25207" 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:914" 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://www.mousephenotype.org/data/genes/MGI:88127" 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/B2M#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:88127" 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/567/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://omia.org/OMIA002430/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=567" 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-980526-88" 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">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:567" 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=B2M&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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109700
|
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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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BETA-2-MICROGLOBULIN; B2M
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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>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=B2M" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">B2M</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>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/15/170?start=-3&limit=10&highlight=170">15q21.1</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:44711517-44718145&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'})">15:44,711,517-44,718,145</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">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=620659,241600" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
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|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/15/170?start=-3&limit=10&highlight=170">
|
|
15q21.1
|
|
</a>
|
|
</span>
|
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</td>
|
|
|
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|
|
<td>
|
|
<span class="mim-font">
|
|
Amyloidosis, hereditary systemic 6
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/620659"> 620659 </a>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
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</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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</span>
|
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</td>
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</tr>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/109700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>Beta-2-microglobulin is a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells (<a href="#17" class="mim-tip-reference" title="Gussow, D., Rein, R., Ginjaar, I., Hochstenbach, F., Seemann, G., Kottman, A., Ploegh, H. L. <strong>The human beta-2-microglobulin gene: primary structure and definition of the transcriptional unit.</strong> J. Immun. 139: 3132-3138, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3312414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3312414</a>]" pmid="3312414">Gussow et al., 1987</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3312414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Cunningham, B. A., Wang, J. L., Berggard, I., Peterson, P. A. <strong>The complete amino acid sequence of beta-2-microglobulin.</strong> Biochemistry 12: 4811-4821, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4586824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4586824</a>] [<a href="https://doi.org/10.1021/bi00748a001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4586824">Cunningham et al. (1973)</a> reported the complete amino acid sequence of the beta-2-microglobulin protein. It is a single polypeptide chain with a molecular mass of 11.6 kD that shows homology to immunoglobulins and HLA, suggesting a common evolutionary origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4586824" 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="#32" class="mim-tip-reference" title="Suggs, S. V., Wallace, R. B., Hirose, T., Kawashima, E. H., Itakura, K. <strong>Use of synthetic oligonucleotides as hybridization probes: isolation of cloned cDNA sequences for human beta-2-microglobulin.</strong> Proc. Nat. Acad. Sci. 78: 6613-6617, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6171820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6171820</a>] [<a href="https://doi.org/10.1073/pnas.78.11.6613" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6171820">Suggs et al. (1981)</a> isolated a partial cDNA clone corresponding to the B2M gene. The mature protein is predicted to contain 99 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6171820" 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="Gussow, D., Rein, R., Ginjaar, I., Hochstenbach, F., Seemann, G., Kottman, A., Ploegh, H. L. <strong>The human beta-2-microglobulin gene: primary structure and definition of the transcriptional unit.</strong> J. Immun. 139: 3132-3138, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3312414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3312414</a>]" pmid="3312414">Gussow et al. (1987)</a> isolated a full-length clone corresponding to the human B2M gene from a human lymphoblastoid cell cDNA library. The deduced 99-residue protein shows 70% amino acid sequence similarity to the mouse protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3312414" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#17" class="mim-tip-reference" title="Gussow, D., Rein, R., Ginjaar, I., Hochstenbach, F., Seemann, G., Kottman, A., Ploegh, H. L. <strong>The human beta-2-microglobulin gene: primary structure and definition of the transcriptional unit.</strong> J. Immun. 139: 3132-3138, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3312414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3312414</a>]" pmid="3312414">Gussow et al. (1987)</a> determined that the B2M gene contains 4 exons and spans approximately 8 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3312414" 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="#13" class="mim-tip-reference" title="Goodfellow, P., Jones, E., Van Heyningen, V., Solomon, E., Kennett, R., Bobrow, M., Bodmer, W. F. <strong>Linkage relationships of the HL-A system and beta-2-microglobulin.</strong> Birth Defects Orig. Art. Ser. 11(3): 162-167, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 332-337, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/54197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">54197</a>]" pmid="54197">Goodfellow et al. (1975)</a> and <a href="#31" class="mim-tip-reference" title="Smith, M., Gold, P., Freedman, S. O., Shuster, J. <strong>Studies of the linkage relationship of beta-2-microglobulin in man-mouse somatic cell hybrids.</strong> Ann. Hum. Genet. 39: 21-31, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/52331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">52331</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1975.tb00104.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="52331">Smith et al. (1975)</a> mapped the B2M gene to chromosome 15 by somatic cell hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=54197+52331" 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="#21" class="mim-tip-reference" title="Manolov, G., Manolova, Y., Kieler, J. <strong>Cytogenetic investigation of assignment of locus for beta-2-microglobulin in K562 leukemia and Namalwa and Daudi Burkitt lymphoma cells. (Abstract)</strong> Cytogenet. Cell Genet. 25: 182 only, 1979."None>Manolov et al. (1979)</a> reported that the Daudi lymphoblastoid cell line, which is derived from Burkitt lymphoma (<a href="/entry/113970">113970</a>) and lacks both HLA antigens and beta-2-microglobulin, has 1 normal chromosome 15 and 1 with a deletion of 15q12-q21. Using high resolution banding techniques, <a href="#36" class="mim-tip-reference" title="Zhang, S., Zech, L. <strong>Marker chromosomes in cell lines from Burkitt's lymphoma: analysis of break points by high resolution techniques. (Abstract)</strong> Sixth International Congress of Human Genetics, Jerusalem 1981. P. 311."None>Zhang and Zech (1981)</a> concluded that the abnormal chromosome 15 in the Daudi cell line is del(15)(q13q15).</p><p><a href="#8" class="mim-tip-reference" title="Cox, D. R., Sawicki, J. A., Yee, D., Appella, E., Epstein, C. J. <strong>Assignment of the gene for beta-2-microglobulin (B2m) to mouse chromosome 2.</strong> Proc. Nat. Acad. Sci. 79: 1930-1934, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6177004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6177004</a>] [<a href="https://doi.org/10.1073/pnas.79.6.1930" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6177004">Cox et al. (1982)</a> assigned the mouse B2m gene to mouse chromosome 2, which is syntenic to human chromosome 15, and suggested that B2M is not linked to major histocompatibility or immunoglobulin loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6177004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Arce-Gomez, B., Jones, E. A., Barnstable, C. J., Solomon, E., Bodmer, W. F. <strong>The genetic control of HLA-A and B antigens in somatic cell hybrids: requirements for beta-2-microglobulin.</strong> Tissue Antigens 11: 96-112, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/77067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">77067</a>] [<a href="https://doi.org/10.1111/j.1399-0039.1978.tb01233.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="77067">Arce-Gomez et al. (1978)</a> made somatic cell hybrids between the Daudi lymphoblastoid cell line and a human cell line derived from HeLa and also showing no HLA antigens. The hybrid cells did express HLA antigens. Since Daudi cells do not express B2M despite the presence of a chromosome 15, reexpression in the hybrid cells was thought to be due to provision of beta-2-microglobulin by the other parental cell line. The experiment showed that beta-2-microglobulin is essential to expression of HLA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=77067" 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>On the basis of molecular cloning studies, <a href="#22" class="mim-tip-reference" title="Margulies, D. H., Parnes, J. R., Johnson, N. A., Seidman, J. G. <strong>Linkage of beta-2-microglobulin and ly-m11 by molecular cloning and DNA-mediated gene transfer.</strong> Proc. Nat. Acad. Sci. 80: 2328-2331, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6188162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6188162</a>] [<a href="https://doi.org/10.1073/pnas.80.8.2328" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6188162">Margulies et al. (1983)</a> suggested that the Ly-m11 antigenic determinant demonstrated on lymphocytes by a monoclonal antibody is on the B2M molecule. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6188162" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The neonatal Fc receptor (FcRn) is a heterodimer of a nonclassical MHC class I alpha chain (FCGRT; <a href="/entry/601437">601437</a>) and B2M that binds the 2 most abundant serum proteins, IgG and albumin (ALB; <a href="/entry/103600">103600</a>), after their constitutive cellular uptake. FcRn binds both proteins, thus acting as a salvage pathway, protecting them from lysosomal degradation and extending the catabolic half-lives of both proteins (<a href="#35" class="mim-tip-reference" title="Wani, M. A., Haynes, L. D., Kim, J., Bronson, C. L., Chaudhury, C., Mohanty, S., Waldmann, T. A., Robinson, J. M., Anderson, C. L. <strong>Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta-2-microglobulin gene.</strong> Proc. Nat. Acad. Sci. 103: 5084-5089, 2006. Note: Erratum: Proc. Nat. Acad. Sci. 103: 10526 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16549777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16549777</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16549777[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0600548103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16549777">Wani et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16549777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Disease Associations</em></strong></p><p>
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Like immunoglobulins, prealbumin, and the beta protein (APP; <a href="/entry/104760">104760</a>) found in the amyloid of Alzheimer disease (<a href="/entry/104300">104300</a>), beta-2-microglobulin has a predominantly beta-pleated sheet structure that may adopt the fibrillar configuration of amyloid in certain pathologic states (<a href="#9" class="mim-tip-reference" title="Cunningham, B. A., Wang, J. L., Berggard, I., Peterson, P. A. <strong>The complete amino acid sequence of beta-2-microglobulin.</strong> Biochemistry 12: 4811-4821, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4586824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4586824</a>] [<a href="https://doi.org/10.1021/bi00748a001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4586824">Cunningham et al., 1973</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4586824" 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>Beta-2-microglobulin had been found in the serum of normal individuals and in the urine in elevated amounts in patients with Wilson disease (<a href="/entry/277900">277900</a>), cadmium poisoning, and other conditions leading to renal tubular dysfunction (<a href="#3" class="mim-tip-reference" title="Berggard, I., Bearn, A. G. <strong>Isolation and properties of a low molecular weight beta-2-globulin occurring in human biological fluids.</strong> J. Biol. Chem. 243: 4095-4103, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4175239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4175239</a>]" pmid="4175239">Berggard and Bearn, 1968</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4175239" 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>Hemodialysis-related amyloidosis (HRA) is a form of systemic amyloidosis with a predilection for the synovium and bone that occurs with a disturbingly high frequency among patients on long-term hemodialysis. The clinical features include carpal tunnel syndrome, erosive arthropathy, spondyloarthropathy, lytic bone lesions, and pathologic fractures. <a href="#12" class="mim-tip-reference" title="Gejyo, F., Yamada, T., Odani, S., Nakagawa, Y., Arakawa, M., Kunitomo, T., Kataoka, H., Suzuki, M., Hirasawa, Y., Shirahama, T., Cohen, A. S., Schmid, K. <strong>A new form of amyloid protein associated with chronic hemodialysis was identified as beta-2-microglobulin.</strong> Biochem. Biophys. Res. Commun. 129: 701-706, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3893430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3893430</a>] [<a href="https://doi.org/10.1016/0006-291x(85)91948-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3893430">Gejyo et al. (1985)</a> found that protein that accumulates in amyloid-laden tissue obtained from a chronic hemodialysis patient with carpal tunnel syndrome was identical to B2M in several characteristics. <a href="#7" class="mim-tip-reference" title="Connors, L. H., Shirahama, T., Skinner, M., Fenves, A., Cohen, A. S. <strong>In vitro formation of amyloid fibrils from intact beta-2-microglobulin.</strong> Biochem. Biophys. Res. Commun. 131: 1063-1068, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2413854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2413854</a>] [<a href="https://doi.org/10.1016/0006-291x(85)90198-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2413854">Connors et al. (1985)</a> demonstrated the in vitro creation of amyloid fibers from B2M. Gorevic et al. (<a href="#15" class="mim-tip-reference" title="Gorevic, P. D., Casey, T. T., Stone, W. J., DiRaimondo, C. R., Prelli, F. C., Frangione, B. <strong>Beta-2 microglobulin is an amyloidogenic protein in man.</strong> J. Clin. Invest. 76: 2425-2429, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3908488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3908488</a>] [<a href="https://doi.org/10.1172/JCI112257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3908488">1985</a>, <a href="#16" class="mim-tip-reference" title="Gorevic, P. D., Munoz, P. C., Casey, T. T., DiRaimondo, C. R., Stone, W. J., Prelli, F. C., Rodrigues, M. M., Poulik, M. D., Frangione, B. <strong>Polymerization of intact beta-2-microglobulin in tissue causes amyloidosis in patients on chronic hemodialysis.</strong> Proc. Nat. Acad. Sci. 83: 7908-7912, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3532124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3532124</a>] [<a href="https://doi.org/10.1073/pnas.83.20.7908" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3532124">1986</a>) reported the amino acid sequence of the HRA subunit protein and identified it as beta-2-microglobulin. The occurrence of amyloidosis in these patients can be prevented by periodic use of high-permeability membranes or intermittent hemofiltration. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3532124+3893430+3908488+2413854" 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="#6" class="mim-tip-reference" title="Charra, B., Calemard, E., Uzan, M., Terrat, J. C., Vanel, T., Laurent, G. <strong>Carpal tunnel syndrome, shoulder pain and amyloid deposits in long-term haemodialysis patients. (Abstract)</strong> Kidney Int. 26: 549 only, 1984."None>Charra et al. (1984)</a> reported that 38 of 52 patients receiving hemodialysis for more than 8 years for chronic renal failure not due to amyloid nephropathy developed carpal tunnel syndrome. Tissues excised at surgical decompression contained amyloid. In 95% of these patients, shoulder pain, which was presumed to be due to amyloid deposits, was present. <a href="#24" class="mim-tip-reference" title="McClure, J., Bartley, C. J., Ackrill, P. <strong>Carpal tunnel syndrome caused by amyloid containing beta-2-microglobulin: a new amyloid and a complication of long term haemodialysis.</strong> Ann. Rheum. Dis. 45: 1007-1011, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3545104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3545104</a>] [<a href="https://doi.org/10.1136/ard.45.12.1007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3545104">McClure et al. (1986)</a> demonstrated the beta-2-microglobulin nature of the amyloid in 3 patients with carpal tunnel syndrome requiring decompression surgery after long-term hemodialysis treatment for chronic renal failure not due to amyloid nephropathy. <a href="#37" class="mim-tip-reference" title="Zingraff, J. J., Noel, L.-H., Bardin, T., Atienza, C., Zins, B., Drueke, T. B., Kuntz, D. <strong>Beta-2-microglobulin amyloidosis in chronic renal failure. (Letter)</strong> New Eng. J. Med. 323: 1070-1071, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2215569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2215569</a>] [<a href="https://doi.org/10.1056/NEJM199010113231514" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2215569">Zingraff et al. (1990)</a> described a patient with severe renal insufficiency who had beta-2-microglobulin amyloidosis despite the fact that dialysis had never been performed. The authors suggested that some B2M variants are more amyloidogenic than others. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2215569+3545104" 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>Some tumors lack cell surface expression of HLA class I molecules and this may be one mechanism by which tumor cells escape immune recognition by cytotoxic T cells. In some cases, there is loss of the heavy chain surface expression encoded by the HLA-A, -B, and -C genes which is responsible; in other cases, expression of the B2M gene for the light chain is responsible. The Daudi lymphoblastoid cell line, derived from a patient with Burkitt lymphoma and lacking both HLA antigens and beta-2 microglobulin, fails to express HLA class I molecules because of a specific defect in the B2M component. In the Daudi cell line, <a href="#30" class="mim-tip-reference" title="Rosa, F., Berissi, H., Weissenbach, J., Maroteaux, L., Fellous, M., Revel, M. <strong>The beta-2-microglobulin mRNA in human Daudi cells has a mutated initiation codon but is still inducible by interferon.</strong> EMBO J. 2: 239-243, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11894933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11894933</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1983.tb01412.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11894933">Rosa et al. (1983)</a> demonstrated a G-to-C transversion in the initiator ATG sequence of the B2M gene, predicted to change the initiator methionine residue to isoleucine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11894933" 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 the human melanoma cell line FO-1, <a href="#10" class="mim-tip-reference" title="D'Urso, C. M., Wang, Z., Cao, Y., Tatake, R., Zeff, R. A., Ferrone, S. <strong>Lack of HLA class I antigen expression by cultured melanoma cells FO-1 due to a defect in B(2)m gene expression.</strong> J. Clin. Invest. 87: 284-292, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1898655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1898655</a>] [<a href="https://doi.org/10.1172/JCI114984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1898655">D'Urso et al. (1991)</a> found that the lack of expression of HLA class I antigens was the result of a defect in the B2M gene: a deletion of the first exon of the 5-prime flanking region and of a segment of the first intron. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1898655" 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="Bicknell, D. C., Rowan, A., Bodmer, W. F. <strong>Beta-2-microglobulin gene mutations: a study of established colorectal cell lines and fresh tumors.</strong> Proc. Nat. Acad. Sci. 91: 4751-4755, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8197130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8197130</a>] [<a href="https://doi.org/10.1073/pnas.91.11.4751" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8197130">Bicknell et al. (1994)</a> used single-strand conformation polymorphism (SSCP) analysis to screen a series of 37 established colorectal cell lines, 22 fresh tumor samples, and 22 normal DNA samples for mutations in the B2M gene. Exon 1 (including the leader peptide sequence) and exon 2 were screened separately. Mutations were found in 6 of 7 colorectal cell lines and 1 of 22 fresh tumors, whereas no mutations were detected in the normal DNA samples. Sequencing of these mutations showed that an 8-bp CT repeat in the leader peptide sequence was particularly variable, since 3 of the cell lines and 1 fresh tumor sample had deletions in this region. In 2 related colorectal cell lines, DLD-1 and HCT-15, 2 similar mutations were identified, a C-to-A substitution in codon 10 and a G-to-T mutation in the splice sequence of intron 1. Expression of beta-2-microglobulin was examined using a series of monoclonal antibodies in an ELISA system. Reduced expression correlated with a mutation in 1 allele of the B2M gene, whereas loss of expression was seen in instances where a line was homozygous for a mutation or heterozygous for 2 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8197130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Immunodeficiency 43</em></strong></p><p>
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In 2 sibs, born of consanguineous parents, with immunodeficiency-43 (IMD43; <a href="/entry/241600">241600</a>) originally reported by <a href="#34" class="mim-tip-reference" title="Waldmann, T. A. <strong>Disorders of immunoglobulin metabolism.</strong> New Eng. J. Med. 281: 1170-1177, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4186801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4186801</a>] [<a href="https://doi.org/10.1056/NEJM196911202812107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4186801">Waldmann (1969)</a>, <a href="#35" class="mim-tip-reference" title="Wani, M. A., Haynes, L. D., Kim, J., Bronson, C. L., Chaudhury, C., Mohanty, S., Waldmann, T. A., Robinson, J. M., Anderson, C. L. <strong>Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta-2-microglobulin gene.</strong> Proc. Nat. Acad. Sci. 103: 5084-5089, 2006. Note: Erratum: Proc. Nat. Acad. Sci. 103: 10526 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16549777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16549777</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16549777[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0600548103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16549777">Wani et al. (2006)</a> identified a homozygous missense mutation in the B2M gene (A11P; <a href="#0001">109700.0001</a>). The findings were consistent with the hypothesis that FcRn, which contains B2M, binds IgG and albumin and serves to salvage both proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16549777+4186801" 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 2 Turkish sibs, born of consanguineous parents, with IMD43, <a href="#2" class="mim-tip-reference" title="Ardeniz, O., Unger, S., Onay, H., Ammann, S., Keck, C., Cianga, C., Gerceker, B., Martin, B., Fuchs, I., Salzer, U., Ikinciogullari, A., Guloglu, D., Dereli, T., Thimme, R., Ehl, S., Schwarz, K., Schmitt-Graeff, A., Cianga, P., Fisch, P., Warnatz, K. <strong>Beta-2-microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system.</strong> J. Allergy Clin. Immun. 136: 392-401, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25702838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25702838</a>] [<a href="https://doi.org/10.1016/j.jaci.2014.12.1937" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25702838">Ardeniz et al. (2015)</a> identified a homozygous loss-of-function mutation in the B2M gene (<a href="#0003">109700.0003</a>). Patient lymphocytes showed no detectable B2M surface protein expression, and serum levels of B2M were undetectable. MHC-I was undetectable on the surface of patient cells, and there was intracellular accumulation of the MHC-I heavy chain (see HLA-A, <a href="/entry/142800">142800</a>). Surface expression of CD1A (<a href="/entry/188370">188370</a>), CD1B (<a href="/entry/188360">188360</a>), and CD1C (<a href="/entry/188340">188340</a>) was absent on monocyte-derived dendritic cells, consistent with the notion that B2M also stabilizes the surface expression of these molecules. There was also functional inactivation of NK cells and lack of invariant natural killer T cells (iNKT). Absent neonatal Fc receptor surface expression led to low serum IgG and albumin in both sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25702838" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Hereditary Systemic Amyloidosis 6</em></strong></p><p>
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In 4 affected members of a family with autosomal dominant visceral amyloidosis (AMYLD6; <a href="/entry/620659">620659</a>), <a href="#33" class="mim-tip-reference" title="Valleix, S., Gillmore, J. D., Bridoux, F., Mangione, P. P., Dogan, A., Nedelec, B., Boimard, M., Touchard, G., Goujon, J.-M., Lacombe, C., Lozeron, P., Adams, D., and 14 others. <strong>Hereditary systemic amyloidosis due to asp76asn variant beta-2-microglobulin.</strong> New Eng. J. Med. 366: 2276-2283, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693999</a>] [<a href="https://doi.org/10.1056/NEJMoa1201356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22693999">Valleix et al. (2012)</a> identified a heterozygous mutation in the B2M gene (D96N; <a href="#0002">109700.0002</a>). The authors referred to the mutation as D76N and noted that variant nomenclature did not include the 20-amino acid signal peptide. Studies on the recombinant mutant protein showed reduced stability of the fully folded mutant protein and significantly increased conversion of the mutant protein into fibrils with amyloid-like properties under physiologic conditions, whereas the wildtype protein did not aggregate at all. In mid-adult life, the patients developed slowly progressive chronic diarrhea with weight loss and sicca syndrome. One had sensorimotor axonal polyneuropathy and orthostatic hypotension and 2 had severe autonomic neuropathy. <a href="#33" class="mim-tip-reference" title="Valleix, S., Gillmore, J. D., Bridoux, F., Mangione, P. P., Dogan, A., Nedelec, B., Boimard, M., Touchard, G., Goujon, J.-M., Lacombe, C., Lozeron, P., Adams, D., and 14 others. <strong>Hereditary systemic amyloidosis due to asp76asn variant beta-2-microglobulin.</strong> New Eng. J. Med. 366: 2276-2283, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693999</a>] [<a href="https://doi.org/10.1056/NEJMoa1201356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22693999">Valleix et al. (2012)</a> noted that the amyloid deposition in this family was different from that observed in dialysis-related amyloidosis, in which B2M-amyloid accumulates around bones and joints. In addition, serum B2M was not increased in the patients with familial disease, whereas it is increased in those with dialysis-related amyloidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22693999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 affected members of a Portuguese family with hereditary systemic amyloidosis, <a href="#27" class="mim-tip-reference" title="Prokaeva, T., Joshi, T., Klimtchuk, E. S., Gibson, V. M., Spencer, B., Siddiqi, O., Nedelkov, D., Hu, Y., Berk, J. L., Cuddy, S. A. M., Dasari, S., Chiu, A., Choate, L. A., McPhail, E. D., Cui, H., Chen, H., Burks, E. J., Sanchorawala, V., Connors, L. H. <strong>A novel substitution of proline (P32L) destabilises beta-2-microglobulin inducing hereditary systemic amyloidosis.</strong> Amyloid 29: 255-262, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35575118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35575118</a>] [<a href="https://doi.org/10.1080/13506129.2022.2072199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35575118">Prokaeva et al. (2022)</a> identified a heterozygous pro52-to-leu (P52L; <a href="#0004">109700.0004</a>) substitution in the B2M gene. <a href="#18" class="mim-tip-reference" title="Haslett, J. J., Patel, J. K., Kittleson, M. M. <strong>Beta 2-microglobulin: case report of a rare cause of cardiac amyloidosis.</strong> Europ. Heart J. Case Rep. 7: ytad239, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37223323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37223323</a>] [<a href="https://doi.org/10.1093/ehjcr/ytad239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37223323">Haslett et al. (2023)</a> identified this mutation in another patient of Portuguese descent; they considered a common ancestor possible. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=37223323+35575118" 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>Allelic variation in the B2m gene has been reported in the mouse (<a href="#29" class="mim-tip-reference" title="Robinson, P. J., Graf, L., Sege, K. <strong>Two allelic forms of mouse beta-2-microglobulin.</strong> Proc. Nat. Acad. Sci. 78: 1167-1170, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6165007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6165007</a>] [<a href="https://doi.org/10.1073/pnas.78.2.1167" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6165007">Robinson et al., 1981</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6165007" 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>Class I MHC molecules, known to be important for immune responses to antigen, are expressed also by neurons that undergo activity-dependent, long-term structural and synaptic modifications. <a href="#19" class="mim-tip-reference" title="Huh, G. S., Boulanger, L. M., Du, H., Riquelme, P. A., Brotz, T. M., Shatz, C. J. <strong>Functional requirement for class I MHC in CNS development and plasticity.</strong> Science 290: 2155-2159, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11118151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11118151</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11118151[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.290.5499.2155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11118151">Huh et al. (2000)</a> showed that in mice genetically deficient for cell surface class I MHC, due to deletion of either TAP1 (<a href="/entry/170260">170260</a>) or beta-2-microglobulin, or for a class I MHC receptor component, CD3-zeta (<a href="/entry/186780">186780</a>), refinement of connections between retina and central targets during development is incomplete. In the hippocampus of adult mutants, N-methyl-D-aspartate receptor-dependent long-term potentiation is enhanced, and long-term depression is absent. Specific class I MHC mRNAs are expressed by distinct mosaics of neurons, reflecting a potential for diverse neuronal functions. These results demonstrated an important role for these molecules in the activity-dependent remodeling and plasticity of connections in the developing and mature mammalian central nervous system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11118151" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The defect in hereditary hemochromatosis (<a href="/entry/235200">235200</a>) resides in the HFE gene (<a href="/entry/613609">613609</a>) in the class I MHC region. This fact lends significance to the findings of <a href="#11" class="mim-tip-reference" title="de Sousa, M., Reimao, R., Lacerda, R., Hugo, P., Kaufmann, S. H. E., Porto, G. <strong>Iron overload in beta-2-microglobulin-deficient mice.</strong> Immun. Lett. 39: 105-111, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8013958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8013958</a>] [<a href="https://doi.org/10.1016/0165-2478(94)90094-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8013958">de Sousa et al. (1994)</a>, who reported a comparative histologic and quantitative analysis of iron distribution in the tissues of mice homozygous and heterozygous for knockout of the beta-2-microglobulin gene. Progressive hepatic iron overload, indistinguishable from that observed in human hemochromatosis, was found only in mice homozygous for the mutated B2M gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8013958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>4 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=109700[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 IMMUNODEFICIENCY 43</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs104894481 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894481;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs104894481?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894481" 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=rs104894481" 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=RCV000019314" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019314" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019314</a>
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<p>In 2 sibs, born of consanguineous parents, with immunodeficiency-43 (IMD43; <a href="/entry/241600">241600</a>) originally reported by <a href="#34" class="mim-tip-reference" title="Waldmann, T. A. <strong>Disorders of immunoglobulin metabolism.</strong> New Eng. J. Med. 281: 1170-1177, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4186801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4186801</a>] [<a href="https://doi.org/10.1056/NEJM196911202812107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4186801">Waldmann (1969)</a>, <a href="#35" class="mim-tip-reference" title="Wani, M. A., Haynes, L. D., Kim, J., Bronson, C. L., Chaudhury, C., Mohanty, S., Waldmann, T. A., Robinson, J. M., Anderson, C. L. <strong>Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta-2-microglobulin gene.</strong> Proc. Nat. Acad. Sci. 103: 5084-5089, 2006. Note: Erratum: Proc. Nat. Acad. Sci. 103: 10526 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16549777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16549777</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16549777[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0600548103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16549777">Wani et al. (2006)</a> identified a homozygous c.913G-C transversion in exon 1 of the B2M gene, resulting in an ala11-to-pro (A11P) substitution at the midpoint of the signal sequence. Both sibs had B2M serum levels that were less than 1.0% of normal as well as soluble HLA levels that were less than 0.2% of normal. Transfection studies showed that the mutant B2M gene resulted in reduced expression of the B2M, MHC class I, and FcRn proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16549777+4186801" 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">rs398122820 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122820;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=rs398122820" 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=rs398122820" 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=RCV000024598 OR RCV000989305" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024598, RCV000989305" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024598...</a>
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<p>In 4 affected members of a family with autosomal dominant visceral amyloidosis (AMYLD6; <a href="/entry/620659">620659</a>), <a href="#33" class="mim-tip-reference" title="Valleix, S., Gillmore, J. D., Bridoux, F., Mangione, P. P., Dogan, A., Nedelec, B., Boimard, M., Touchard, G., Goujon, J.-M., Lacombe, C., Lozeron, P., Adams, D., and 14 others. <strong>Hereditary systemic amyloidosis due to asp76asn variant beta-2-microglobulin.</strong> New Eng. J. Med. 366: 2276-2283, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693999</a>] [<a href="https://doi.org/10.1056/NEJMoa1201356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22693999">Valleix et al. (2012)</a> identified a heterozygous c.286G-A transition (c.286G-A, NM_004048) in the B2M gene, resulting in an asp96-to-asn (D96N) substitution. The authors referred to the mutation as D76N and noted that variant nomenclature did not include the 20-amino acid signal peptide. Studies on the recombinant mutant protein showed reduced stability of the fully folded mutant protein and significantly increased conversion of the mutant protein into fibrils with amyloid-like properties under physiologic conditions, whereas the wildtype protein did not aggregate at all. Although the high-resolution crystal structure of the mutant protein was similar to wildtype, the D76N substitution has 2 notable effects: establishment of new hydrogen bonds and increase of the isoelectric point. In mid-adult life, the patients developed slowly progressive chronic diarrhea with weight loss and sicca syndrome. One had sensorimotor axonal polyneuropathy and orthostatic hypotension and 2 had severe autonomic neuropathy. Postmortem examination of 1 patient, who died at age 70 years, showed extensive B2M-containing amyloid deposits in the spleen, liver, heart, salivary glands, and nerves. Colonic biopsy from another affected individual also contained B2M-containing amyloid deposits. Amyloid scintigraphy of 2 patients showed a heavy visceral amyloid burden in the spleen and adrenal glands, but not in heart. <a href="#33" class="mim-tip-reference" title="Valleix, S., Gillmore, J. D., Bridoux, F., Mangione, P. P., Dogan, A., Nedelec, B., Boimard, M., Touchard, G., Goujon, J.-M., Lacombe, C., Lozeron, P., Adams, D., and 14 others. <strong>Hereditary systemic amyloidosis due to asp76asn variant beta-2-microglobulin.</strong> New Eng. J. Med. 366: 2276-2283, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693999</a>] [<a href="https://doi.org/10.1056/NEJMoa1201356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22693999">Valleix et al. (2012)</a> noted that the amyloid deposition in this family was different from that observed in dialysis-related amyloidosis, in which B2M-amyloid accumulates around bones and joints. In addition, serum B2M was not increased in the patients with familial disease, whereas it is increased in those with dialysis-related amyloidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22693999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 IMMUNODEFICIENCY 43</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs863225287 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863225287;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=rs863225287" 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=rs863225287" 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=RCV000201934 OR RCV002478720" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000201934, RCV002478720" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000201934...</a>
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<p>In 2 Turkish sibs, born of consanguineous parents, with immunodeficiency-43 (IMD43; <a href="/entry/241600">241600</a>), <a href="#2" class="mim-tip-reference" title="Ardeniz, O., Unger, S., Onay, H., Ammann, S., Keck, C., Cianga, C., Gerceker, B., Martin, B., Fuchs, I., Salzer, U., Ikinciogullari, A., Guloglu, D., Dereli, T., Thimme, R., Ehl, S., Schwarz, K., Schmitt-Graeff, A., Cianga, P., Fisch, P., Warnatz, K. <strong>Beta-2-microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system.</strong> J. Allergy Clin. Immun. 136: 392-401, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25702838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25702838</a>] [<a href="https://doi.org/10.1016/j.jaci.2014.12.1937" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25702838">Ardeniz et al. (2015)</a> identified a homozygous G-to-T transversion in intron 1 of the B2M gene (c.67+1G-T), predicted to result in a frameshift and premature termination in exon 2. Each unaffected parent was heterozygous for the mutation, which was not found in 200 control chromosomes. Patient cells showed absence of the mutant transcript, consistent with nonsense-mediated mRNA decay. Patient lymphocytes showed no detectable B2M surface protein expression, and undetectable serum levels of B2M. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25702838" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 AMYLOIDOSIS, HEREDITARY SYSTEMIC 6</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2141288680 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2141288680;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=rs2141288680" 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=rs2141288680" 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=RCV001353095 OR RCV001871910 OR RCV004555880" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001353095, RCV001871910, RCV004555880" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001353095...</a>
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<p>In 3 members of a Portuguese family with hereditary systemic amyloidosis (AMYLD6; <a href="/entry/620659">620659</a>), <a href="#27" class="mim-tip-reference" title="Prokaeva, T., Joshi, T., Klimtchuk, E. S., Gibson, V. M., Spencer, B., Siddiqi, O., Nedelkov, D., Hu, Y., Berk, J. L., Cuddy, S. A. M., Dasari, S., Chiu, A., Choate, L. A., McPhail, E. D., Cui, H., Chen, H., Burks, E. J., Sanchorawala, V., Connors, L. H. <strong>A novel substitution of proline (P32L) destabilises beta-2-microglobulin inducing hereditary systemic amyloidosis.</strong> Amyloid 29: 255-262, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35575118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35575118</a>] [<a href="https://doi.org/10.1080/13506129.2022.2072199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35575118">Prokaeva et al. (2022)</a> identified a heterozygous 2-bp deletion/insertion (c.154_155delinsTT) in exon 2 of the B2M gene that resulted in a pro52-to-leu (P52L) substitution in the mature protein. The authors also referred to the mutation as P32L. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35575118" 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 63-year old man of Portuguese descent with cardiac amyloidosis, who had a family history of amyloidosis, <a href="#18" class="mim-tip-reference" title="Haslett, J. J., Patel, J. K., Kittleson, M. M. <strong>Beta 2-microglobulin: case report of a rare cause of cardiac amyloidosis.</strong> Europ. Heart J. Case Rep. 7: ytad239, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37223323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37223323</a>] [<a href="https://doi.org/10.1093/ehjcr/ytad239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37223323">Haslett et al. (2023)</a> detected the same P52L substitution in B2M identified by <a href="#27" class="mim-tip-reference" title="Prokaeva, T., Joshi, T., Klimtchuk, E. S., Gibson, V. M., Spencer, B., Siddiqi, O., Nedelkov, D., Hu, Y., Berk, J. L., Cuddy, S. A. M., Dasari, S., Chiu, A., Choate, L. A., McPhail, E. D., Cui, H., Chen, H., Burks, E. J., Sanchorawala, V., Connors, L. H. <strong>A novel substitution of proline (P32L) destabilises beta-2-microglobulin inducing hereditary systemic amyloidosis.</strong> Amyloid 29: 255-262, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35575118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35575118</a>] [<a href="https://doi.org/10.1080/13506129.2022.2072199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35575118">Prokaeva et al. (2022)</a>. <a href="#18" class="mim-tip-reference" title="Haslett, J. J., Patel, J. K., Kittleson, M. M. <strong>Beta 2-microglobulin: case report of a rare cause of cardiac amyloidosis.</strong> Europ. Heart J. Case Rep. 7: ytad239, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37223323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37223323</a>] [<a href="https://doi.org/10.1093/ehjcr/ytad239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37223323">Haslett et al. (2023)</a> considered a common ancestor possible. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=37223323+35575118" 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="#Casey1986" class="mim-tip-reference" title="Casey, T. T., Stone, W. J., DiRaimondo, C. R., Brantley, B. D., DiRaimondo, C. V., Gorevic, P. D., Page, D. L. <strong>Tumoral amyloidosis of bone of beta-2-microglobulin origin in association with long-term hemodialysis: a new type of amyloid disease.</strong> Hum. Path. 17: 731-738, 1986.">Casey et al. (1986)</a>; <a href="#Goodfellow1975" class="mim-tip-reference" title="Goodfellow, P. N., Jones, E. A., Van Heyningen, V., Solomon, E., Bobrow, M. <strong>The beta-2-microglobulin gene is on chromosome 15 and not in the HL-A region.</strong> Nature 254: 267-269, 1975.">Goodfellow et al. (1975)</a>; <a href="#Lindblom1974" class="mim-tip-reference" title="Lindblom, J. B., Ostberg, I., Peterson, P. <strong>Beta-2-microglobulin on the cell surface: relationship to HL-A antigens and the mixed lymphocyte culture reaction.</strong> Tissue Antigens 4: 186-196, 1974.">Lindblom et al.
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(1974)</a>; <a href="#Marx1974" class="mim-tip-reference" title="Marx, J. L. <strong>Immunology: role of beta-2-microglobulin.</strong> Science 185: 428-429, 1974.">Marx (1974)</a>; <a href="#Michaelson1980" class="mim-tip-reference" title="Michaelson, J., Rothenberg, E., Boyse, E. A. <strong>Genetic polymorphism of murine beta-2-microglobulin detected biochemically.</strong> Immunogenetics 11: 93-95, 1980.">Michaelson et al. (1980)</a>; <a href="#Oliver1978" class="mim-tip-reference" title="Oliver, N., Francke, U., Pellegrino, M. A. <strong>Regional assignment of genes for mannose phosphate isomerase, pyruvate kinase-3, and beta-2-microglobulin expression on human chromosome 15 by hybridization of cells from a t(15;22) (q14;q13.3) translocation carrier.</strong> Cytogenet. Cell Genet. 22: 506-510, 1978.">Oliver et al. (1978)</a>; <a href="#Reisfeld1975" class="mim-tip-reference" title="Reisfeld, R. A., Sevier, E. D., Pellegrino, M. A., Ferrone, S., Poulik, M. D. <strong>Association of HL-A antigens and beta-2-microglobulin at the cellular and molecular level.</strong> Immunogenetics 2: 183-197, 1975.">Reisfeld et al. (1975)</a>
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<a id="Arce-Gomez1978" class="mim-anchor"></a>
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Arce-Gomez, B., Jones, E. A., Barnstable, C. J., Solomon, E., Bodmer, W. F.
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<strong>The genetic control of HLA-A and B antigens in somatic cell hybrids: requirements for beta-2-microglobulin.</strong>
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Tissue Antigens 11: 96-112, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/77067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">77067</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=77067" 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/10.1111/j.1399-0039.1978.tb01233.x" target="_blank">Full Text</a>]
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Ardeniz, O., Unger, S., Onay, H., Ammann, S., Keck, C., Cianga, C., Gerceker, B., Martin, B., Fuchs, I., Salzer, U., Ikinciogullari, A., Guloglu, D., Dereli, T., Thimme, R., Ehl, S., Schwarz, K., Schmitt-Graeff, A., Cianga, P., Fisch, P., Warnatz, K.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25702838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25702838</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25702838" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.jaci.2014.12.1937" target="_blank">Full Text</a>]
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Berggard, I., Bearn, A. G.
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<strong>Isolation and properties of a low molecular weight beta-2-globulin occurring in human biological fluids.</strong>
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J. Biol. Chem. 243: 4095-4103, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4175239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4175239</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4175239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bicknell, D. C., Rowan, A., Bodmer, W. F.
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<strong>Beta-2-microglobulin gene mutations: a study of established colorectal cell lines and fresh tumors.</strong>
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Proc. Nat. Acad. Sci. 91: 4751-4755, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8197130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8197130</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8197130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.91.11.4751" target="_blank">Full Text</a>]
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Casey, T. T., Stone, W. J., DiRaimondo, C. R., Brantley, B. D., DiRaimondo, C. V., Gorevic, P. D., Page, D. L.
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<strong>Tumoral amyloidosis of bone of beta-2-microglobulin origin in association with long-term hemodialysis: a new type of amyloid disease.</strong>
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Hum. Path. 17: 731-738, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3087858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3087858</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3087858" 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/s0046-8177(86)80183-6" target="_blank">Full Text</a>]
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Charra, B., Calemard, E., Uzan, M., Terrat, J. C., Vanel, T., Laurent, G.
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<strong>Carpal tunnel syndrome, shoulder pain and amyloid deposits in long-term haemodialysis patients. (Abstract)</strong>
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Connors, L. H., Shirahama, T., Skinner, M., Fenves, A., Cohen, A. S.
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<strong>In vitro formation of amyloid fibrils from intact beta-2-microglobulin.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2413854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2413854</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2413854" 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(85)90198-6" target="_blank">Full Text</a>]
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Cox, D. R., Sawicki, J. A., Yee, D., Appella, E., Epstein, C. J.
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<strong>Assignment of the gene for beta-2-microglobulin (B2m) to mouse chromosome 2.</strong>
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Proc. Nat. Acad. Sci. 79: 1930-1934, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6177004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6177004</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6177004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.79.6.1930" target="_blank">Full Text</a>]
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Cunningham, B. A., Wang, J. L., Berggard, I., Peterson, P. A.
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<strong>The complete amino acid sequence of beta-2-microglobulin.</strong>
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Biochemistry 12: 4811-4821, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4586824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4586824</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4586824" 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/10.1021/bi00748a001" target="_blank">Full Text</a>]
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D'Urso, C. M., Wang, Z., Cao, Y., Tatake, R., Zeff, R. A., Ferrone, S.
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<strong>Lack of HLA class I antigen expression by cultured melanoma cells FO-1 due to a defect in B(2)m gene expression.</strong>
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J. Clin. Invest. 87: 284-292, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1898655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1898655</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1898655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI114984" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0039.1974.tb00241.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.80.8.2328" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/ard.45.12.1007" target="_blank">Full Text</a>]
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Robinson, P. J., Graf, L., Sege, K.
|
|
<strong>Two allelic forms of mouse beta-2-microglobulin.</strong>
|
|
Proc. Nat. Acad. Sci. 78: 1167-1170, 1981.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6165007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6165007</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6165007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1073/pnas.78.2.1167" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="30" class="mim-anchor"></a>
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<a id="Rosa1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rosa, F., Berissi, H., Weissenbach, J., Maroteaux, L., Fellous, M., Revel, M.
|
|
<strong>The beta-2-microglobulin mRNA in human Daudi cells has a mutated initiation codon but is still inducible by interferon.</strong>
|
|
EMBO J. 2: 239-243, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11894933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11894933</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11894933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1002/j.1460-2075.1983.tb01412.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="31" class="mim-anchor"></a>
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<a id="Smith1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Smith, M., Gold, P., Freedman, S. O., Shuster, J.
|
|
<strong>Studies of the linkage relationship of beta-2-microglobulin in man-mouse somatic cell hybrids.</strong>
|
|
Ann. Hum. Genet. 39: 21-31, 1975.
|
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/52331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">52331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=52331" 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/10.1111/j.1469-1809.1975.tb00104.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="32" class="mim-anchor"></a>
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<a id="Suggs1981" class="mim-anchor"></a>
|
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<div class="">
|
|
<p class="mim-text-font">
|
|
Suggs, S. V., Wallace, R. B., Hirose, T., Kawashima, E. H., Itakura, K.
|
|
<strong>Use of synthetic oligonucleotides as hybridization probes: isolation of cloned cDNA sequences for human beta-2-microglobulin.</strong>
|
|
Proc. Nat. Acad. Sci. 78: 6613-6617, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6171820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6171820</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6171820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.78.11.6613" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="33" class="mim-anchor"></a>
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<a id="Valleix2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Valleix, S., Gillmore, J. D., Bridoux, F., Mangione, P. P., Dogan, A., Nedelec, B., Boimard, M., Touchard, G., Goujon, J.-M., Lacombe, C., Lozeron, P., Adams, D., and 14 others.
|
|
<strong>Hereditary systemic amyloidosis due to asp76asn variant beta-2-microglobulin.</strong>
|
|
New Eng. J. Med. 366: 2276-2283, 2012.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693999</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22693999" 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/10.1056/NEJMoa1201356" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="34" class="mim-anchor"></a>
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<a id="Waldmann1969" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Waldmann, T. A.
|
|
<strong>Disorders of immunoglobulin metabolism.</strong>
|
|
New Eng. J. Med. 281: 1170-1177, 1969.
|
|
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|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4186801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4186801</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4186801" 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/10.1056/NEJM196911202812107" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="35" class="mim-anchor"></a>
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<a id="Wani2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wani, M. A., Haynes, L. D., Kim, J., Bronson, C. L., Chaudhury, C., Mohanty, S., Waldmann, T. A., Robinson, J. M., Anderson, C. L.
|
|
<strong>Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta-2-microglobulin gene.</strong>
|
|
Proc. Nat. Acad. Sci. 103: 5084-5089, 2006. Note: Erratum: Proc. Nat. Acad. Sci. 103: 10526 only, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16549777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16549777</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16549777[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16549777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0600548103" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="36" class="mim-anchor"></a>
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<a id="Zhang1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhang, S., Zech, L.
|
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<strong>Marker chromosomes in cell lines from Burkitt's lymphoma: analysis of break points by high resolution techniques. (Abstract)</strong>
|
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Sixth International Congress of Human Genetics, Jerusalem 1981. P. 311.
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</p>
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</div>
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</li>
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<li>
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<a id="37" class="mim-anchor"></a>
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<a id="Zingraff1990" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
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Zingraff, J. J., Noel, L.-H., Bardin, T., Atienza, C., Zins, B., Drueke, T. B., Kuntz, D.
|
|
<strong>Beta-2-microglobulin amyloidosis in chronic renal failure. (Letter)</strong>
|
|
New Eng. J. Med. 323: 1070-1071, 1990.
|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2215569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2215569</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2215569" 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/10.1056/NEJM199010113231514" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<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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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/11/2015
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</span>
|
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</div>
|
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</div>
|
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<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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|
Cassandra L. Kniffin - updated : 6/14/2012<br>Cassandra L. Kniffin - updated : 5/18/2006<br>Victor A. McKusick - updated : 5/14/2001<br>Ada Hamosh - updated : 1/5/2001<br>Victor A. McKusick - updated : 5/9/1997
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
|
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Victor A. McKusick : 6/4/1986
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
alopez : 05/20/2024
|
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</span>
|
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</div>
|
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</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
carol : 08/05/2016<br>alopez : 11/18/2015<br>alopez : 11/16/2015<br>ckniffin : 11/11/2015<br>terry : 10/10/2012<br>alopez : 6/14/2012<br>ckniffin : 6/14/2012<br>carol : 10/21/2010<br>terry : 5/7/2007<br>wwang : 6/14/2006<br>ckniffin : 5/18/2006<br>carol : 1/3/2002<br>cwells : 5/15/2001<br>cwells : 5/15/2001<br>terry : 5/14/2001<br>carol : 1/5/2001<br>carol : 11/3/1998<br>mark : 5/9/1997<br>carol : 9/19/1994<br>terry : 5/13/1994<br>pfoster : 3/25/1994<br>mimadm : 2/11/1994<br>supermim : 3/16/1992<br>carol : 1/28/1991
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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|
|
<div class="container visible-print-block">
|
|
|
|
<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
|
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<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 109700
|
|
</span>
|
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</h3>
|
|
</div>
|
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|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
BETA-2-MICROGLOBULIN; B2M
|
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|
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</span>
|
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</h3>
|
|
</div>
|
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: B2M</em></strong>
|
|
</span>
|
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</p>
|
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 15q21.1
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 15:44,711,517-44,718,145 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
15q21.1
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Amyloidosis, hereditary systemic 6
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
620659
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Immunodeficiency 43
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
241600
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
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|
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<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Beta-2-microglobulin is a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells (Gussow et al., 1987). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</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>Cunningham et al. (1973) reported the complete amino acid sequence of the beta-2-microglobulin protein. It is a single polypeptide chain with a molecular mass of 11.6 kD that shows homology to immunoglobulins and HLA, suggesting a common evolutionary origin. </p><p>Suggs et al. (1981) isolated a partial cDNA clone corresponding to the B2M gene. The mature protein is predicted to contain 99 amino acids. </p><p>Gussow et al. (1987) isolated a full-length clone corresponding to the human B2M gene from a human lymphoblastoid cell cDNA library. The deduced 99-residue protein shows 70% amino acid sequence similarity to the mouse 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>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gussow et al. (1987) determined that the B2M gene contains 4 exons and spans approximately 8 kb. </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>Goodfellow et al. (1975) and Smith et al. (1975) mapped the B2M gene to chromosome 15 by somatic cell hybridization. </p><p>Manolov et al. (1979) reported that the Daudi lymphoblastoid cell line, which is derived from Burkitt lymphoma (113970) and lacks both HLA antigens and beta-2-microglobulin, has 1 normal chromosome 15 and 1 with a deletion of 15q12-q21. Using high resolution banding techniques, Zhang and Zech (1981) concluded that the abnormal chromosome 15 in the Daudi cell line is del(15)(q13q15).</p><p>Cox et al. (1982) assigned the mouse B2m gene to mouse chromosome 2, which is syntenic to human chromosome 15, and suggested that B2M is not linked to major histocompatibility or immunoglobulin loci. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Arce-Gomez et al. (1978) made somatic cell hybrids between the Daudi lymphoblastoid cell line and a human cell line derived from HeLa and also showing no HLA antigens. The hybrid cells did express HLA antigens. Since Daudi cells do not express B2M despite the presence of a chromosome 15, reexpression in the hybrid cells was thought to be due to provision of beta-2-microglobulin by the other parental cell line. The experiment showed that beta-2-microglobulin is essential to expression of HLA. </p><p>On the basis of molecular cloning studies, Margulies et al. (1983) suggested that the Ly-m11 antigenic determinant demonstrated on lymphocytes by a monoclonal antibody is on the B2M molecule. </p><p>The neonatal Fc receptor (FcRn) is a heterodimer of a nonclassical MHC class I alpha chain (FCGRT; 601437) and B2M that binds the 2 most abundant serum proteins, IgG and albumin (ALB; 103600), after their constitutive cellular uptake. FcRn binds both proteins, thus acting as a salvage pathway, protecting them from lysosomal degradation and extending the catabolic half-lives of both proteins (Wani et al., 2006). </p><p><strong><em>Disease Associations</em></strong></p><p>
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Like immunoglobulins, prealbumin, and the beta protein (APP; 104760) found in the amyloid of Alzheimer disease (104300), beta-2-microglobulin has a predominantly beta-pleated sheet structure that may adopt the fibrillar configuration of amyloid in certain pathologic states (Cunningham et al., 1973). </p><p>Beta-2-microglobulin had been found in the serum of normal individuals and in the urine in elevated amounts in patients with Wilson disease (277900), cadmium poisoning, and other conditions leading to renal tubular dysfunction (Berggard and Bearn, 1968). </p><p>Hemodialysis-related amyloidosis (HRA) is a form of systemic amyloidosis with a predilection for the synovium and bone that occurs with a disturbingly high frequency among patients on long-term hemodialysis. The clinical features include carpal tunnel syndrome, erosive arthropathy, spondyloarthropathy, lytic bone lesions, and pathologic fractures. Gejyo et al. (1985) found that protein that accumulates in amyloid-laden tissue obtained from a chronic hemodialysis patient with carpal tunnel syndrome was identical to B2M in several characteristics. Connors et al. (1985) demonstrated the in vitro creation of amyloid fibers from B2M. Gorevic et al. (1985, 1986) reported the amino acid sequence of the HRA subunit protein and identified it as beta-2-microglobulin. The occurrence of amyloidosis in these patients can be prevented by periodic use of high-permeability membranes or intermittent hemofiltration. </p><p>Charra et al. (1984) reported that 38 of 52 patients receiving hemodialysis for more than 8 years for chronic renal failure not due to amyloid nephropathy developed carpal tunnel syndrome. Tissues excised at surgical decompression contained amyloid. In 95% of these patients, shoulder pain, which was presumed to be due to amyloid deposits, was present. McClure et al. (1986) demonstrated the beta-2-microglobulin nature of the amyloid in 3 patients with carpal tunnel syndrome requiring decompression surgery after long-term hemodialysis treatment for chronic renal failure not due to amyloid nephropathy. Zingraff et al. (1990) described a patient with severe renal insufficiency who had beta-2-microglobulin amyloidosis despite the fact that dialysis had never been performed. The authors suggested that some B2M variants are more amyloidogenic than others. </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>Some tumors lack cell surface expression of HLA class I molecules and this may be one mechanism by which tumor cells escape immune recognition by cytotoxic T cells. In some cases, there is loss of the heavy chain surface expression encoded by the HLA-A, -B, and -C genes which is responsible; in other cases, expression of the B2M gene for the light chain is responsible. The Daudi lymphoblastoid cell line, derived from a patient with Burkitt lymphoma and lacking both HLA antigens and beta-2 microglobulin, fails to express HLA class I molecules because of a specific defect in the B2M component. In the Daudi cell line, Rosa et al. (1983) demonstrated a G-to-C transversion in the initiator ATG sequence of the B2M gene, predicted to change the initiator methionine residue to isoleucine. </p><p>In the human melanoma cell line FO-1, D'Urso et al. (1991) found that the lack of expression of HLA class I antigens was the result of a defect in the B2M gene: a deletion of the first exon of the 5-prime flanking region and of a segment of the first intron. </p><p>Bicknell et al. (1994) used single-strand conformation polymorphism (SSCP) analysis to screen a series of 37 established colorectal cell lines, 22 fresh tumor samples, and 22 normal DNA samples for mutations in the B2M gene. Exon 1 (including the leader peptide sequence) and exon 2 were screened separately. Mutations were found in 6 of 7 colorectal cell lines and 1 of 22 fresh tumors, whereas no mutations were detected in the normal DNA samples. Sequencing of these mutations showed that an 8-bp CT repeat in the leader peptide sequence was particularly variable, since 3 of the cell lines and 1 fresh tumor sample had deletions in this region. In 2 related colorectal cell lines, DLD-1 and HCT-15, 2 similar mutations were identified, a C-to-A substitution in codon 10 and a G-to-T mutation in the splice sequence of intron 1. Expression of beta-2-microglobulin was examined using a series of monoclonal antibodies in an ELISA system. Reduced expression correlated with a mutation in 1 allele of the B2M gene, whereas loss of expression was seen in instances where a line was homozygous for a mutation or heterozygous for 2 mutations. </p><p><strong><em>Immunodeficiency 43</em></strong></p><p>
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In 2 sibs, born of consanguineous parents, with immunodeficiency-43 (IMD43; 241600) originally reported by Waldmann (1969), Wani et al. (2006) identified a homozygous missense mutation in the B2M gene (A11P; 109700.0001). The findings were consistent with the hypothesis that FcRn, which contains B2M, binds IgG and albumin and serves to salvage both proteins. </p><p>In 2 Turkish sibs, born of consanguineous parents, with IMD43, Ardeniz et al. (2015) identified a homozygous loss-of-function mutation in the B2M gene (109700.0003). Patient lymphocytes showed no detectable B2M surface protein expression, and serum levels of B2M were undetectable. MHC-I was undetectable on the surface of patient cells, and there was intracellular accumulation of the MHC-I heavy chain (see HLA-A, 142800). Surface expression of CD1A (188370), CD1B (188360), and CD1C (188340) was absent on monocyte-derived dendritic cells, consistent with the notion that B2M also stabilizes the surface expression of these molecules. There was also functional inactivation of NK cells and lack of invariant natural killer T cells (iNKT). Absent neonatal Fc receptor surface expression led to low serum IgG and albumin in both sibs. </p><p><strong><em>Hereditary Systemic Amyloidosis 6</em></strong></p><p>
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In 4 affected members of a family with autosomal dominant visceral amyloidosis (AMYLD6; 620659), Valleix et al. (2012) identified a heterozygous mutation in the B2M gene (D96N; 109700.0002). The authors referred to the mutation as D76N and noted that variant nomenclature did not include the 20-amino acid signal peptide. Studies on the recombinant mutant protein showed reduced stability of the fully folded mutant protein and significantly increased conversion of the mutant protein into fibrils with amyloid-like properties under physiologic conditions, whereas the wildtype protein did not aggregate at all. In mid-adult life, the patients developed slowly progressive chronic diarrhea with weight loss and sicca syndrome. One had sensorimotor axonal polyneuropathy and orthostatic hypotension and 2 had severe autonomic neuropathy. Valleix et al. (2012) noted that the amyloid deposition in this family was different from that observed in dialysis-related amyloidosis, in which B2M-amyloid accumulates around bones and joints. In addition, serum B2M was not increased in the patients with familial disease, whereas it is increased in those with dialysis-related amyloidosis. </p><p>In 3 affected members of a Portuguese family with hereditary systemic amyloidosis, Prokaeva et al. (2022) identified a heterozygous pro52-to-leu (P52L; 109700.0004) substitution in the B2M gene. Haslett et al. (2023) identified this mutation in another patient of Portuguese descent; they considered a common ancestor possible. </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>Allelic variation in the B2m gene has been reported in the mouse (Robinson et al., 1981). </p><p>Class I MHC molecules, known to be important for immune responses to antigen, are expressed also by neurons that undergo activity-dependent, long-term structural and synaptic modifications. Huh et al. (2000) showed that in mice genetically deficient for cell surface class I MHC, due to deletion of either TAP1 (170260) or beta-2-microglobulin, or for a class I MHC receptor component, CD3-zeta (186780), refinement of connections between retina and central targets during development is incomplete. In the hippocampus of adult mutants, N-methyl-D-aspartate receptor-dependent long-term potentiation is enhanced, and long-term depression is absent. Specific class I MHC mRNAs are expressed by distinct mosaics of neurons, reflecting a potential for diverse neuronal functions. These results demonstrated an important role for these molecules in the activity-dependent remodeling and plasticity of connections in the developing and mature mammalian central nervous system. </p><p>The defect in hereditary hemochromatosis (235200) resides in the HFE gene (613609) in the class I MHC region. This fact lends significance to the findings of de Sousa et al. (1994), who reported a comparative histologic and quantitative analysis of iron distribution in the tissues of mice homozygous and heterozygous for knockout of the beta-2-microglobulin gene. Progressive hepatic iron overload, indistinguishable from that observed in human hemochromatosis, was found only in mice homozygous for the mutated B2M gene. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>4 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 IMMUNODEFICIENCY 43</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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B2M, ALA11PRO
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<br />
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SNP: rs104894481,
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gnomAD: rs104894481,
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ClinVar: RCV000019314
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 sibs, born of consanguineous parents, with immunodeficiency-43 (IMD43; 241600) originally reported by Waldmann (1969), Wani et al. (2006) identified a homozygous c.913G-C transversion in exon 1 of the B2M gene, resulting in an ala11-to-pro (A11P) substitution at the midpoint of the signal sequence. Both sibs had B2M serum levels that were less than 1.0% of normal as well as soluble HLA levels that were less than 0.2% of normal. Transfection studies showed that the mutant B2M gene resulted in reduced expression of the B2M, MHC class I, and FcRn proteins. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 AMYLOIDOSIS, HEREDITARY SYSTEMIC 6</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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B2M, ASP96ASN
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<br />
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SNP: rs398122820,
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ClinVar: RCV000024598, RCV000989305
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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 4 affected members of a family with autosomal dominant visceral amyloidosis (AMYLD6; 620659), Valleix et al. (2012) identified a heterozygous c.286G-A transition (c.286G-A, NM_004048) in the B2M gene, resulting in an asp96-to-asn (D96N) substitution. The authors referred to the mutation as D76N and noted that variant nomenclature did not include the 20-amino acid signal peptide. Studies on the recombinant mutant protein showed reduced stability of the fully folded mutant protein and significantly increased conversion of the mutant protein into fibrils with amyloid-like properties under physiologic conditions, whereas the wildtype protein did not aggregate at all. Although the high-resolution crystal structure of the mutant protein was similar to wildtype, the D76N substitution has 2 notable effects: establishment of new hydrogen bonds and increase of the isoelectric point. In mid-adult life, the patients developed slowly progressive chronic diarrhea with weight loss and sicca syndrome. One had sensorimotor axonal polyneuropathy and orthostatic hypotension and 2 had severe autonomic neuropathy. Postmortem examination of 1 patient, who died at age 70 years, showed extensive B2M-containing amyloid deposits in the spleen, liver, heart, salivary glands, and nerves. Colonic biopsy from another affected individual also contained B2M-containing amyloid deposits. Amyloid scintigraphy of 2 patients showed a heavy visceral amyloid burden in the spleen and adrenal glands, but not in heart. Valleix et al. (2012) noted that the amyloid deposition in this family was different from that observed in dialysis-related amyloidosis, in which B2M-amyloid accumulates around bones and joints. In addition, serum B2M was not increased in the patients with familial disease, whereas it is increased in those with dialysis-related 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>.0003 IMMUNODEFICIENCY 43</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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B2M, IVS1DS, G-T, +1
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<br />
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SNP: rs863225287,
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ClinVar: RCV000201934, RCV002478720
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 Turkish sibs, born of consanguineous parents, with immunodeficiency-43 (IMD43; 241600), Ardeniz et al. (2015) identified a homozygous G-to-T transversion in intron 1 of the B2M gene (c.67+1G-T), predicted to result in a frameshift and premature termination in exon 2. Each unaffected parent was heterozygous for the mutation, which was not found in 200 control chromosomes. Patient cells showed absence of the mutant transcript, consistent with nonsense-mediated mRNA decay. Patient lymphocytes showed no detectable B2M surface protein expression, and undetectable serum levels of B2M. </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 6</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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B2M, PRO52LEU
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<br />
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SNP: rs2141288680,
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ClinVar: RCV001353095, RCV001871910, RCV004555880
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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 3 members of a Portuguese family with hereditary systemic amyloidosis (AMYLD6; 620659), Prokaeva et al. (2022) identified a heterozygous 2-bp deletion/insertion (c.154_155delinsTT) in exon 2 of the B2M gene that resulted in a pro52-to-leu (P52L) substitution in the mature protein. The authors also referred to the mutation as P32L. </p><p>In a 63-year old man of Portuguese descent with cardiac amyloidosis, who had a family history of amyloidosis, Haslett et al. (2023) detected the same P52L substitution in B2M identified by Prokaeva et al. (2022). Haslett et al. (2023) considered a common ancestor possible. </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>See Also:</strong>
|
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</span>
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</h4>
|
|
<span class="mim-text-font">
|
|
Casey et al. (1986); Goodfellow et al. (1975); Lindblom et al.
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|
(1974); Marx (1974); Michaelson et al. (1980); Oliver et al. (1978);
|
|
Reisfeld et al. (1975)
|
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</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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<ol>
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<li>
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<p class="mim-text-font">
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Arce-Gomez, B., Jones, E. A., Barnstable, C. J., Solomon, E., Bodmer, W. F.
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<strong>The genetic control of HLA-A and B antigens in somatic cell hybrids: requirements for beta-2-microglobulin.</strong>
|
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Tissue Antigens 11: 96-112, 1978.
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[PubMed: 77067]
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[Full Text: https://doi.org/10.1111/j.1399-0039.1978.tb01233.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">
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Ardeniz, O., Unger, S., Onay, H., Ammann, S., Keck, C., Cianga, C., Gerceker, B., Martin, B., Fuchs, I., Salzer, U., Ikinciogullari, A., Guloglu, D., Dereli, T., Thimme, R., Ehl, S., Schwarz, K., Schmitt-Graeff, A., Cianga, P., Fisch, P., Warnatz, K.
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<strong>Beta-2-microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system.</strong>
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J. Allergy Clin. Immun. 136: 392-401, 2015.
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[PubMed: 25702838]
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[Full Text: https://doi.org/10.1016/j.jaci.2014.12.1937]
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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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Berggard, I., Bearn, A. G.
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<strong>Isolation and properties of a low molecular weight beta-2-globulin occurring in human biological fluids.</strong>
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J. Biol. Chem. 243: 4095-4103, 1968.
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[PubMed: 4175239]
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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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Bicknell, D. C., Rowan, A., Bodmer, W. F.
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<strong>Beta-2-microglobulin gene mutations: a study of established colorectal cell lines and fresh tumors.</strong>
|
|
Proc. Nat. Acad. Sci. 91: 4751-4755, 1994.
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[PubMed: 8197130]
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/11/2015<br>Cassandra L. Kniffin - updated : 6/14/2012<br>Cassandra L. Kniffin - updated : 5/18/2006<br>Victor A. McKusick - updated : 5/14/2001<br>Ada Hamosh - updated : 1/5/2001<br>Victor A. McKusick - updated : 5/9/1997
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</span>
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Victor A. McKusick : 6/4/1986
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