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<title>
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Entry
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- *137060 - BETA-1,4-GALACTOSYLTRANSFERASE 1; B4GALT1
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- OMIM
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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="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</form>
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<p />
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</div>
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*137060</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 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 role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" 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" style="margin-left: 1em">
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<a href="#history">History</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/137060">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=ENSG00000086062;t=ENST00000379731" 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=2683" 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=137060" 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=ENSG00000086062;t=ENST00000379731" 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_001378495,NM_001378496,NM_001378497,NM_001497,XM_047423231,XM_047423232" 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_001497" 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=137060" 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=00659&isoform_id=00659_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/B4GALT1" 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/29424,32058,32059,34990,306813,306814,386759,500808,500810,500812,705388,903740,1926411,13929462,28279429,116241264,119578924,119578925,189053491,194384640,194387148,218104248,221045976,578042830,578042834,1811109590,1811109592,1811109598,2217376781,2217376783,2462624212,2462624214" 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/P15291" 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=2683" 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=ENSG00000086062;t=ENST00000379731" 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=B4GALT1" 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=B4GALT1" 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+2683" 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/B4GALT1" 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:2683" 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/2683" 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=chr9&hgg_gene=ENST00000379731.5&hgg_start=33104077&hgg_end=33185089&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:924" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=137060[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=137060[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/ENSG00000086062" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=B4GALT1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=B4GALT1" 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=B4GALT1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.euroglycanet.org/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=B4GALT1&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/PA25223" 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:924" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0027538.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:95705" 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/B4GALT1#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:95705" 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/2683/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=2683" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00000269;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050417-236" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2683" 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=B4GALT1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 725587007<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
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137060
|
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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-1,4-GALACTOSYLTRANSFERASE 1; B4GALT1
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</span>
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 1<br />
|
|
GTB<br />
|
|
GALACTOSYLTRANSFERASE 1; GT1<br />
|
|
GLYCOPROTEIN 4-BETA-GALACTOSYLTRANSFERASE 2; GGTB2
|
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</span>
|
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</h4>
|
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</div>
|
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</div>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
|
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<a id="includedTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
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<span class="mim-font">
|
|
Other entities represented in this entry:
|
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</span>
|
|
</p>
|
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</div>
|
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<div>
|
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<span class="h3 mim-font">
|
|
LACTOSE SYNTHETASE, INCLUDED
|
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</span>
|
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</div>
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</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=B4GALT1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">B4GALT1</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/9/128?start=-3&limit=10&highlight=128">9p21.1</a>
|
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:33104077-33185089&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'})">9:33,104,077-33,185,089</a> </span>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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Combined low LDL and fibrinogen
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Congenital disorder of glycosylation, type IId
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<a href="/entry/607091"> 607091 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/137060" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/137060" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </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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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Description</strong>
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<p>The enzyme galactosyltransferase (<a href="https://enzyme.expasy.org/EC/2.4.1.38" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.4.1.38</a>) catalyzes the reaction involving UDP-galactose and N-acetylglucosamine for the production of galactose beta-1,4-N-acetylglucosamine. The galactosyltransferase enzyme can also form a heterodimer with the regulatory protein alpha-lactalbumin to form lactose synthetase (<a href="https://enzyme.expasy.org/EC/2.4.1.22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.4.1.22</a>). In addition to a biosynthetic role, galactosyltransferases may be components of plasma membranes where they may function in intercellular recognition and/or adhesion. <a href="#11" class="mim-tip-reference" title="Masri, K. A., Appert, H. E., Fukuda, M. N. <strong>Identification of the full-length coding sequence for human galactosyltransferase (beta-N-acetylglucosaminide: beta-1,4-galactosyltransferase).</strong> Biochem. Biophys. Res. Commun. 157: 657-663, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3144273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3144273</a>] [<a href="https://doi.org/10.1016/s0006-291x(88)80300-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3144273">Masri et al. (1988)</a> noted that galactosyltransferase, which they called beta-1,4-galactosyltransferase, is located primarily in the trans-cisternae of the Golgi complex and exists in both membrane-bound and soluble forms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3144273" 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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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Cloning and Expression</strong>
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<p><a href="#1" class="mim-tip-reference" title="Appert, H. E., Rutherford, T. J., Tarr, G. E., Wiest, J. S., Thomford, N. R., McCorquodale, D. J. <strong>Isolation of a cDNA coding for human galactosyltransferase.</strong> Biochem. Biophys. Res. Commun. 139: 163-168, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3094506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3094506</a>] [<a href="https://doi.org/10.1016/s0006-291x(86)80094-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3094506">Appert et al. (1986)</a> cloned a galactosyltransferase cDNA by screening a human liver cDNA library with a probe based on the sequence of the purified protein. The partial cDNA did not include the putative N-terminal membrane-bound region. By screening a human placenta cDNA library with the partial galactosyltransferase cDNA isolated by <a href="#1" class="mim-tip-reference" title="Appert, H. E., Rutherford, T. J., Tarr, G. E., Wiest, J. S., Thomford, N. R., McCorquodale, D. J. <strong>Isolation of a cDNA coding for human galactosyltransferase.</strong> Biochem. Biophys. Res. Commun. 139: 163-168, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3094506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3094506</a>] [<a href="https://doi.org/10.1016/s0006-291x(86)80094-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3094506">Appert et al. (1986)</a>, <a href="#11" class="mim-tip-reference" title="Masri, K. A., Appert, H. E., Fukuda, M. N. <strong>Identification of the full-length coding sequence for human galactosyltransferase (beta-N-acetylglucosaminide: beta-1,4-galactosyltransferase).</strong> Biochem. Biophys. Res. Commun. 157: 657-663, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3144273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3144273</a>] [<a href="https://doi.org/10.1016/s0006-291x(88)80300-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3144273">Masri et al. (1988)</a> cloned a full-length beta-1,4-galactosyltransferase cDNA. It encodes a predicted 400-amino acid protein with an N-terminal membrane-anchoring domain. The soluble form of the enzyme appears to result from proteolytic cleavage of the membrane-bound form at arginine-77. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3094506+3144273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By Northern blot analysis, <a href="#13" class="mim-tip-reference" title="Mengle-Gaw, L., McCoy-Haman, M. F., Tiemeier, D. C. <strong>Genomic structure and expression of human beta-1,4-galactosyltransferase.</strong> Biochem. Biophys. Res. Commun. 176: 1269-1276, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1903938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1903938</a>] [<a href="https://doi.org/10.1016/0006-291x(91)90423-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1903938">Mengle-Gaw et al. (1991)</a> determined that B4GALT1 was expressed as a 4.2-kb mRNA in all cell lines examined; there was a high degree of variability in expression levels among the cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1903938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By immunolocalization in human umbilical vein endothelial cells, <a href="#15" class="mim-tip-reference" title="Schnyder-Candrian, S., Borsig, L., Moser, R., Berger, E. G. <strong>Localization of alpha-1,3-fucosyltransferase VI in Weibel-Palade bodies of human endothelial cells.</strong> Proc. Nat. Acad. Sci. 97: 8369-8374, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10900002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10900002</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10900002[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.97.15.8369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10900002">Schnyder-Candrian et al. (2000)</a> localized B4GALT1 with fucosyltransferase-6 (FUT6; <a href="/entry/136836">136836</a>) in compact juxtanuclear structures typical of the Golgi apparatus. They noted incomplete overlap of staining. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10900002" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="geneStructure" class="mim-anchor"></a>
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<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Gene Structure</strong>
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<p><a href="#13" class="mim-tip-reference" title="Mengle-Gaw, L., McCoy-Haman, M. F., Tiemeier, D. C. <strong>Genomic structure and expression of human beta-1,4-galactosyltransferase.</strong> Biochem. Biophys. Res. Commun. 176: 1269-1276, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1903938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1903938</a>] [<a href="https://doi.org/10.1016/0006-291x(91)90423-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1903938">Mengle-Gaw et al. (1991)</a> reported that the galactosyltransferase gene, which they called GalTase, contains 6 exons spanning more than 50 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1903938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="mapping" class="mim-anchor"></a>
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<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Mapping</strong>
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<p><a href="#2" class="mim-tip-reference" title="Appert, H., Rutherford, T., Tarr, G., Wiest, J., Thomford, N., McCorquodale, M., McCorquodale, D. J. <strong>Isolation of a cDNA for human galactosyltransferase. (Abstract)</strong> Am. J. Hum. Genet. 39: A186 only, 1986."None>Appert et al. (1986)</a> mapped the galactosyltransferase gene to chromosome 9. <a href="#16" class="mim-tip-reference" title="Shaper, N. L., Shaper, J. H., Bertness, V., Chang, H., Kirsch, I. R., Hollis, G. F. <strong>The human galactosyltransferase gene is on chromosome 9 at band p13.</strong> Somat. Cell Molec. Genet. 12: 633-636, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3097837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3097837</a>] [<a href="https://doi.org/10.1007/BF01671948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3097837">Shaper et al. (1986)</a> localized the structural gene for galactosyltransferase to 9p13 by in situ hybridization using a cloned bovine cDNA probe. On the basis of dosage effects, <a href="#5" class="mim-tip-reference" title="Furukawa, K., Roth, S., Sawicki, J. <strong>Several galactosyltransferase activities are associated with mouse chromosome 17.</strong> Genetics 114: 983-991, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3098628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3098628</a>] [<a href="https://doi.org/10.1093/genetics/114.3.983" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3098628">Furukawa et al. (1986)</a> suggested that several galactosyltransferase genes may be located on chromosome 17 of the mouse; trisomy 17 embryos had enzyme activities almost 1.5 times higher than did diploid embryos. <a href="#5" class="mim-tip-reference" title="Furukawa, K., Roth, S., Sawicki, J. <strong>Several galactosyltransferase activities are associated with mouse chromosome 17.</strong> Genetics 114: 983-991, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3098628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3098628</a>] [<a href="https://doi.org/10.1093/genetics/114.3.983" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3098628">Furukawa et al. (1986)</a> suggested a relationship between these galactosyltransferases and the major histocompatibility complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3097837+3098628" 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="Lee, P. L., Kohler, J. J., Pfeffer, S. R. <strong>Association of beta-1,3-N-acetylglucosaminyltransferase 1 and beta-1,4-galactosyltransferase 1, trans-Golgi enzymes involved in coupled poly-N-acetyllactosamine synthesis.</strong> Glycobiology 19: 655-664, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19261593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19261593</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19261593[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/10.1093/glycob/cwp035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19261593">Lee et al. (2009)</a> stated that B3GNT1 (<a href="/entry/605517">605517</a>) and B4GALT1 alternately polymerize N-acetylglucosamine and galactose residues, respectively, for the formation of poly-N-acetyllactosamine, a linear carbohydrate that can be incorporated into either N- or O-linked glycans. Using transfected HeLa and COS-1 cells for immunofluorescence and coimmunoprecipitation analysis, respectively, they found that B3GNT1 and B4GALT1 interact directly and colocalize to the Golgi. Addition of an endoplasmic reticulum (ER) retention signal to the C terminus of either enzyme caused relocalization of both to the ER. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19261593" 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><strong><em>Congenital Disorder of Glycosylation Type IId</em></strong></p><p>
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In a patient with congenital disorder of glycosylation type IId (CDG2D; <a href="/entry/607091">607091</a>), a severe neurologic disease characterized by a hydrocephalus, myopathy, and blood clotting defects, <a href="#6" class="mim-tip-reference" title="Hansske, B., Thiel, C., Lubke, T., Hasilik, M., Honing, S., Peters, V., Heidemann, P. H., Hoffmann, G. F., Berger, E. G., von Figura, K., Korner, C. <strong>Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.</strong> J. Clin. Invest. 109: 725-733, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11901181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11901181</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11901181[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/10.1172/JCI14010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11901181">Hansske et al. (2002)</a> found deficiency of B4GALT1. Analysis of oligosaccharides from serum transferrin revealed loss of sialic acid and galactose residues. In skin fibroblasts and leukocytes, galactosyltransferase activity was reduced to 5% that of controls, and a truncated polypeptide was detected in fibroblasts that was about 12 kD smaller than wildtype B4GALT1. The protein also failed to localize to the Golgi apparatus. Sequencing of the cDNA revealed a single nucleotide insertion (1031insC; <a href="#0001">137060.0001</a>), leading to a premature translation stop and loss of the C-terminal 50 amino acids. Expression of the mutant cDNA in COS-7 cells led to the synthesis of a truncated, inactive polypeptide which localized to the endoplasmic reticulum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11901181" 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="#18" class="mim-tip-reference" title="Staretz-Chacham, O., Noyman, I., Wormser, O., Quider, A. A., Hazan, G., Morag, I., Hadar, N., Raymond, K., Birk, O. S., Ferreira, C. R., Koifman, A. <strong>B4GALT1-congenital disorders of glycosylation: expansion of the phenotypic and molecular spectrum and review of the literature.</strong> Clin. Genet. 97: 920-926, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32157688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32157688</a>] [<a href="https://doi.org/10.1111/cge.13735" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32157688">Staretz-Chacham et al. (2020)</a> identified a homozygous missense mutation in the B4GALT1 gene (R21W; <a href="#0003">137060.0003</a>) in 3 members of a consanguineous Bedouin Israeli family with CDG2D. The mutation, which was identified by homozygosity mapping and whole-exome sequencing, segregated with the disorder in the family. Glycosylation analysis in serum of 2 affected individuals showed a moderate elevation of Man3GlcNAc4Fuc1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32157688" 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>Combined Low LDL and Fibrinogen</em></strong></p><p>
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<a href="#14" class="mim-tip-reference" title="Montasser, M. E., Van Hout, C. V., Miloscio, L., Howard, A. D., Rosenberg, A., Callaway, M., Shen, B., Li, N., Locke, A. E., Verweij, N., De, T., Ferreira, M. A., and 27 others. <strong>Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.</strong> Science 374: 1221-1227, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34855475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34855475</a>] [<a href="https://doi.org/10.1126/science.abe0348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34855475">Montasser et al. (2021)</a> identified an association between an Amish-enriched asn352-to-ser (N352S; <a href="#0004">137060.0004</a>) variant in a functional domain of the B4GALT1 gene with lower LDL cholesterol (13.9 mg/dl lower; p = 4.1 x 10-19) and lower plasma fibrinogen (29 mg/d lower mg/dl; p = 1.3 x 10-5) (CLDLFIB; <a href="/entry/620364">620364</a>). The mean level of AST in N352S homozygotes was 2-fold higher than that in 352N homozygotes (35.8 vs 18.4 U/L, normal range 10-35 U/L, p = 5.9 x 10-17). Whereas 352N homozygotes had normal tri-sialo/di-oligosaccharide transferrin rations, this ratio in 352S homozygotes was abnormal (p = 9.2 x 10-10). B4GALT1 gene-based analysis in 544,955 individuals showed an association of 352S with decreased risk of coronary artery disease (OR = 0.64, p = 0.006). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34855475" 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>To identify genetic variants in LDL-C, <a href="#14" class="mim-tip-reference" title="Montasser, M. E., Van Hout, C. V., Miloscio, L., Howard, A. D., Rosenberg, A., Callaway, M., Shen, B., Li, N., Locke, A. E., Verweij, N., De, T., Ferreira, M. A., and 27 others. <strong>Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.</strong> Science 374: 1221-1227, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34855475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34855475</a>] [<a href="https://doi.org/10.1126/science.abe0348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34855475">Montasser et al. (2021)</a> performed whole-exome sequencing and association analysis in 6,890 Old Order Amish. Linear mixed-model association analysis identified previously ascertained loci for LDL-C as well as a novel locus on the short arm of chromosome 9. The N352S missense variant was identified in the B4GALT1 gene. The variant was located in the flexible long C-terminal region of the protein that undergoes conformational changes to allow for the exchange of the sugar molecule during glycosylation. <a href="#14" class="mim-tip-reference" title="Montasser, M. E., Van Hout, C. V., Miloscio, L., Howard, A. D., Rosenberg, A., Callaway, M., Shen, B., Li, N., Locke, A. E., Verweij, N., De, T., Ferreira, M. A., and 27 others. <strong>Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.</strong> Science 374: 1221-1227, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34855475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34855475</a>] [<a href="https://doi.org/10.1126/science.abe0348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34855475">Montasser et al. (2021)</a> suggested that a mutation in this region may impede the necessary conformational change and effect glycosylation efficiency in the regulation of lipid metabolism and fibrinogen levels. The N352S variant had a minor allele frequency of 6% in the Old Order Amish but only 8 copies were identified in 140,000 whole-genome sequences of non-Amish individuals in the NHLBI TOPMed program. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34855475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Lo, N.-W., Shaper, J. H., Pevsner, J., Shaper, N. L. <strong>The expanding beta-4-galactosyltransferase gene family: messages from the databanks.</strong> Glycobiology 8: 517-526, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9597550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9597550</a>] [<a href="https://doi.org/10.1093/glycob/8.5.517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9597550">Lo et al. (1998)</a> analyzed 6 members of the B4GALT galactosyltransferase family. Northern blot analysis revealed that, among these homologs, only B4GALT1 is expressed in the mouse lactating mammary gland. They stated that B4galt1-null mice are unable to produce lactose. Thus, B4GALT1 appears to be the gene recruited for lactose biosynthesis during the evolution of mammals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9597550" 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="#3" class="mim-tip-reference" title="Asano, M., Furukawa, K., Kido, M., Matsumoto, S., Umesaki, Y., Kochibe, N., Iwakura, Y. <strong>Growth retardation and early death of beta-1,4-galactosyltransferase knockout mice with augmented proliferation and abnormal differentiation of epithelial cells.</strong> EMBO J. 16: 1850-1857, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9155011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9155011</a>] [<a href="https://doi.org/10.1093/emboj/16.8.1850" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9155011">Asano et al. (1997)</a> produced GalT-knockout mice by gene targeting. GalT-deficient mice were born normally and were fertile, but exhibited growth retardation and semilethality. Epithelial cell proliferation of the skin and small intestine was enhanced, and cell differentiation in intestinal villi was abnormal. The authors concluded that GalT is dispensable during embryonic development, but important in the regulation of proliferation and differentiation of epithelial cells after birth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9155011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Kotani, N., Asano, M., Iwakura, Y., Takasaki, S. <strong>Knockout of mouse beta-1,4-galactosyltransferase-1 gene results in a dramatic shift of outer chain moieties of N-glycans from type 2 to type 1 chains in hepatic membrane and plasma glycoproteins.</strong> Biochem. J. 357: 827-834, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11463354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11463354</a>] [<a href="https://doi.org/10.1042/0264-6021:3570827" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11463354">Kotani et al. (2001)</a> studied the glycoproteins synthesized by B4GALT1 knockout mice. They observed a shift in the galactose linkages from the largely beta-1,4 linkage with GlcNAc in wildtype mice, to beta-1,3 linkage in knockout mice. This change resulted in the shift of the backbone structure from a type 2 chain to a type 1 chain. Analysis of N-glycans of plasma glycoproteins revealed a shift in sialyl linkages and oversialylated type 1 chains. These results suggested that B4GALT1 deficiency was compensated for by beta-1,3-galactosyltransferases (see B3GALT1, <a href="/entry/603093">603093</a>), resulting in altered backbone structures or altered sialyl linkages on outer chains, depending on the acceptor specificities of sialyltransferases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11463354" 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="#7" class="mim-tip-reference" title="Humphreys-Beher, M. G., Bunnell, B., vanTuinen, P., Ledbetter, D. H., Kidd, V. J. <strong>Molecular cloning and chromosomal localization of human 4-beta-galactosyltransferase.</strong> Proc. Nat. Acad. Sci. 83: 8918-8922, 1986. Note: Erratum: Proc. Nat. Acad. Sci. 86: 8747 only, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3097639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3097639</a>] [<a href="https://doi.org/10.1073/pnas.83.23.8918" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3097639">Humphreys-Beher et al. (1986)</a> isolated a cDNA clone for what they believed to be human 4-beta-galactosyltransferase from a human liver expression library and mapped the gene (GGTB1) to chromosome 4 by Southern analysis of a somatic cell hybrid panel. In an erratum, the authors reported that the antibody used for the isolation of the cDNA clone was not monospecific. Analysis of the complete nucleotide sequence and expression of the cDNA clone showed that it was not the catalytic enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3097639" 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">rs1564035076 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1564035076;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=rs1564035076" 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=rs1564035076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with congenital disorder of glycosylation type IId (CDG2D; <a href="/entry/607091">607091</a>), <a href="#6" class="mim-tip-reference" title="Hansske, B., Thiel, C., Lubke, T., Hasilik, M., Honing, S., Peters, V., Heidemann, P. H., Hoffmann, G. F., Berger, E. G., von Figura, K., Korner, C. <strong>Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.</strong> J. Clin. Invest. 109: 725-733, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11901181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11901181</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11901181[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/10.1172/JCI14010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11901181">Hansske et al. (2002)</a> identified a single nucleotide insertion at position 1031 (1031insC) of the B4GALT1 gene, resulting in a premature translation stop and loss of 50 amino acids at the C terminus. The resultant inactive protein was retained in the endoplasmic reticulum. The patient was homozygous and his parents heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11901181" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId</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">rs1840249855 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1840249855;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=rs1840249855" 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=rs1840249855" 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=RCV001293779" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001293779" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001293779</a>
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<p>In a 4-year-old girl with congenital disorder of glycosylation type IId (CDG2D; <a href="/entry/607091">607091</a>), <a href="#12" class="mim-tip-reference" title="Medrano, C., Vega, A., Navarrete, R., Ecay, M. J., Calvo, R., Pascual, S. I., Ruiz-Pons, M., Toledo, L., Garcia-Jimenez, I., Arroyo, I., Campo, A., Couce, M. L., and 18 others. <strong>Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.</strong> Clin. Genet. 95: 615-626, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30653653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30653653</a>] [<a href="https://doi.org/10.1111/cge.13508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30653653">Medrano et al. (2019)</a> identified a homozygous c.579C-G transversion (c.579C-G, NM_001497) in the B4GALT1 gene, resulting in a tyr193-to-ter (Y193X) substitution. Segregation analysis showed that the patient's mother carried the mutation but her father did not. Family microsatellite marker segregation analysis confirmed the presence of maternal isodisomy of chromosome 9, leading to homozygosity of the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30653653" 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 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId</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> rs1065764 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1065764;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/rs1065764?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=rs1065764" 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=rs1065764" 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=RCV001293780" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001293780" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001293780</a>
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<p>In 3 members of a consanguineous Bedouin Israeli family with congenital disorder of glycosylation type IId (CDG2D; <a href="/entry/607091">607091</a>), <a href="#18" class="mim-tip-reference" title="Staretz-Chacham, O., Noyman, I., Wormser, O., Quider, A. A., Hazan, G., Morag, I., Hadar, N., Raymond, K., Birk, O. S., Ferreira, C. R., Koifman, A. <strong>B4GALT1-congenital disorders of glycosylation: expansion of the phenotypic and molecular spectrum and review of the literature.</strong> Clin. Genet. 97: 920-926, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32157688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32157688</a>] [<a href="https://doi.org/10.1111/cge.13735" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32157688">Staretz-Chacham et al. (2020)</a> identified a homozygous c.61C-T transition (c.61C-T, NM_001497.3) in the B4GALT1 gene, resulting in an arg21-to-trp (R21W) substitution in the transmembrane domain. The mutation, which was identified by homozygosity mapping and whole-exome sequencing, segregated with the disorder in the family. The variant was present in the gnomAD database in 3 of 253,694 alleles with no homozygotes reported, and it was not found in 236 ethnically matched controls. The mutation was predicted to affect both the protein structure and function. (In the article by <a href="#18" class="mim-tip-reference" title="Staretz-Chacham, O., Noyman, I., Wormser, O., Quider, A. A., Hazan, G., Morag, I., Hadar, N., Raymond, K., Birk, O. S., Ferreira, C. R., Koifman, A. <strong>B4GALT1-congenital disorders of glycosylation: expansion of the phenotypic and molecular spectrum and review of the literature.</strong> Clin. Genet. 97: 920-926, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32157688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32157688</a>] [<a href="https://doi.org/10.1111/cge.13735" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32157688">Staretz-Chacham et al. (2020)</a>, the mutation is designated R21W in figure 1 (E, F, G) but as R185W in the figure legend. <a href="#19" class="mim-tip-reference" title="Staretz-Chacham, O. <strong>Personal Communication.</strong> Beer Sheva, Israel 2/20/2021."None>Staretz-Chacham (2021)</a> confirmed that R21W is correct.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32157688" 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 COMBINED LOW LDL AND FIBRINOGEN</strong>
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B4GALT1, ASN352SER (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs551564683;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs551564683</a>)
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003228703" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003228703" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003228703</a>
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<p><a href="#14" class="mim-tip-reference" title="Montasser, M. E., Van Hout, C. V., Miloscio, L., Howard, A. D., Rosenberg, A., Callaway, M., Shen, B., Li, N., Locke, A. E., Verweij, N., De, T., Ferreira, M. A., and 27 others. <strong>Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.</strong> Science 374: 1221-1227, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34855475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34855475</a>] [<a href="https://doi.org/10.1126/science.abe0348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34855475">Montasser et al. (2021)</a> identified an association between an Amish-enriched asn352-to-ser (N352S) mutation in a functional domain of the B4GALT1 gene with low LDL cholesterol and plasma fibrinogen (CLDLFIB; <a href="/entry/620364">620364</a>). The variant is located in the flexible long C-terminal region of the protein that undergoes conformational changes to allow for the exchange of the sugar molecule during glycosylation. <a href="#14" class="mim-tip-reference" title="Montasser, M. E., Van Hout, C. V., Miloscio, L., Howard, A. D., Rosenberg, A., Callaway, M., Shen, B., Li, N., Locke, A. E., Verweij, N., De, T., Ferreira, M. A., and 27 others. <strong>Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.</strong> Science 374: 1221-1227, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34855475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34855475</a>] [<a href="https://doi.org/10.1126/science.abe0348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34855475">Montasser et al. (2021)</a> suggested that a mutation in this region may impede the necessary conformational change and effect glycosylation efficiency in the regulation of lipid metabolism and fibrinogen levels. The mean level of aspartate aminotransferase (AST) in N352S homozygotes was 2-fold higher than that in 352N homozygotes (35.8 vs 18.4 U/L, normal range 10-35 U/L, p = 5.9 x 10-17). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34855475" 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="#Duncan1986" class="mim-tip-reference" title="Duncan, A. M. V., McCorquodale, M. M., Morgan, C., Rutherford, T. J., Appert, H. E., McCorquodale, D. J. <strong>Chromosomal localization of the gene for a human galactosyltransferase (GT-1).</strong> Biochem. Biophys. Res. Commun. 141: 1185-1188, 1986.">Duncan et al. (1986)</a>; <a href="#Shaper1986" class="mim-tip-reference" title="Shaper, N. L., Shaper, J. H., Meuth, J. L., Fox, J. L., Chang, H., Kirsch, I. R., Hollis, G. F. <strong>Bovine galactosyltransferase: identification of a clone by direct immunological screening of a cDNA expression library.</strong> Proc. Nat. Acad. Sci. 83: 1573-1577, 1986.">Shaper et al. (1986)</a>
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Appert, H. E., Rutherford, T. J., Tarr, G. E., Wiest, J. S., Thomford, N. R., McCorquodale, D. J.
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<strong>Isolation of a cDNA coding for human galactosyltransferase.</strong>
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Biochem. Biophys. Res. Commun. 139: 163-168, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3094506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3094506</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3094506" 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/s0006-291x(86)80094-8" target="_blank">Full Text</a>]
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Appert, H., Rutherford, T., Tarr, G., Wiest, J., Thomford, N., McCorquodale, M., McCorquodale, D. J.
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<strong>Isolation of a cDNA for human galactosyltransferase. (Abstract)</strong>
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Am. J. Hum. Genet. 39: A186 only, 1986.
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Asano, M., Furukawa, K., Kido, M., Matsumoto, S., Umesaki, Y., Kochibe, N., Iwakura, Y.
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<strong>Growth retardation and early death of beta-1,4-galactosyltransferase knockout mice with augmented proliferation and abnormal differentiation of epithelial cells.</strong>
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EMBO J. 16: 1850-1857, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9155011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9155011</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9155011" 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/10.1093/emboj/16.8.1850" target="_blank">Full Text</a>]
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<strong>Chromosomal localization of the gene for a human galactosyltransferase (GT-1).</strong>
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Biochem. Biophys. Res. Commun. 141: 1185-1188, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3101678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3101678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3101678" 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/s0006-291x(86)80169-3" target="_blank">Full Text</a>]
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<a id="Furukawa1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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<strong>Several galactosyltransferase activities are associated with mouse chromosome 17.</strong>
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[<a href="https://doi.org/10.1093/genetics/114.3.983" target="_blank">Full Text</a>]
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<div class="">
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[<a href="https://doi.org/10.1172/JCI14010" target="_blank">Full Text</a>]
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<div class="">
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<strong>Molecular cloning and chromosomal localization of human 4-beta-galactosyltransferase.</strong>
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[<a href="https://doi.org/10.1073/pnas.83.23.8918" target="_blank">Full Text</a>]
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<strong>Knockout of mouse beta-1,4-galactosyltransferase-1 gene results in a dramatic shift of outer chain moieties of N-glycans from type 2 to type 1 chains in hepatic membrane and plasma glycoproteins.</strong>
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[<a href="https://doi.org/10.1042/0264-6021:3570827" target="_blank">Full Text</a>]
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<a id="Lee2009" class="mim-anchor"></a>
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Lee, P. L., Kohler, J. J., Pfeffer, S. R.
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<strong>Association of beta-1,3-N-acetylglucosaminyltransferase 1 and beta-1,4-galactosyltransferase 1, trans-Golgi enzymes involved in coupled poly-N-acetyllactosamine synthesis.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19261593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19261593</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19261593[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=19261593" 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/10.1093/glycob/cwp035" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/glycob/8.5.517" target="_blank">Full Text</a>]
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<strong>Identification of the full-length coding sequence for human galactosyltransferase (beta-N-acetylglucosaminide: beta-1,4-galactosyltransferase).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3144273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3144273</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3144273" 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/s0006-291x(88)80300-0" target="_blank">Full Text</a>]
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<a id="Medrano2019" class="mim-anchor"></a>
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Medrano, C., Vega, A., Navarrete, R., Ecay, M. J., Calvo, R., Pascual, S. I., Ruiz-Pons, M., Toledo, L., Garcia-Jimenez, I., Arroyo, I., Campo, A., Couce, M. L., and 18 others.
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[<a href="https://doi.org/10.1111/cge.13508" target="_blank">Full Text</a>]
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<a id="Mengle-Gaw1991" class="mim-anchor"></a>
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<strong>Genomic structure and expression of human beta-1,4-galactosyltransferase.</strong>
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[<a href="https://doi.org/10.1016/0006-291x(91)90423-5" target="_blank">Full Text</a>]
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<a id="Montasser2021" class="mim-anchor"></a>
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<div class="">
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Montasser, M. E., Van Hout, C. V., Miloscio, L., Howard, A. D., Rosenberg, A., Callaway, M., Shen, B., Li, N., Locke, A. E., Verweij, N., De, T., Ferreira, M. A., and 27 others.
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<strong>Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.</strong>
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Science 374: 1221-1227, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34855475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34855475</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34855475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.abe0348" target="_blank">Full Text</a>]
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<a id="Schnyder-Candrian2000" class="mim-anchor"></a>
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Schnyder-Candrian, S., Borsig, L., Moser, R., Berger, E. G.
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<strong>Localization of alpha-1,3-fucosyltransferase VI in Weibel-Palade bodies of human endothelial cells.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10900002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10900002</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10900002[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=10900002" 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.97.15.8369" target="_blank">Full Text</a>]
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<a id="Shaper1986" class="mim-anchor"></a>
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<strong>The human galactosyltransferase gene is on chromosome 9 at band p13.</strong>
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[<a href="https://doi.org/10.1007/BF01671948" target="_blank">Full Text</a>]
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<a id="Shaper1986" class="mim-anchor"></a>
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Shaper, N. L., Shaper, J. H., Meuth, J. L., Fox, J. L., Chang, H., Kirsch, I. R., Hollis, G. F.
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<strong>Bovine galactosyltransferase: identification of a clone by direct immunological screening of a cDNA expression library.</strong>
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[<a href="https://doi.org/10.1073/pnas.83.6.1573" target="_blank">Full Text</a>]
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<a id="Staretz-Chacham2020" class="mim-anchor"></a>
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Staretz-Chacham, O., Noyman, I., Wormser, O., Quider, A. A., Hazan, G., Morag, I., Hadar, N., Raymond, K., Birk, O. S., Ferreira, C. R., Koifman, A.
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<strong>B4GALT1-congenital disorders of glycosylation: expansion of the phenotypic and molecular spectrum and review of the literature.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32157688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32157688</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32157688" 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/cge.13735" target="_blank">Full Text</a>]
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<a id="Staretz-Chacham2021" class="mim-anchor"></a>
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Staretz-Chacham, O.
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<strong>Personal Communication.</strong>
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Beer Sheva, Israel 2/20/2021.
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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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Kelly A. Przylepa - updated : 05/16/2023
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Hilary J. Vernon - updated : 03/02/2021<br>Patricia A. Hartz - updated : 08/01/2013<br>Cassandra L. Kniffin - updated : 7/9/2002<br>Patricia A. Hartz - updated : 7/1/2002<br>Wilson H. Y. Lo - updated : 4/6/2000<br>Jennifer P. Macke - updated : 7/13/1999<br>Rebekah S. Rasooly - updated : 5/4/1998
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/25/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/14/2023
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/17/2023<br>carol : 05/16/2023<br>carol : 03/03/2021<br>carol : 03/02/2021<br>carol : 03/06/2018<br>carol : 03/26/2017<br>alopez : 08/01/2013<br>carol : 3/18/2013<br>alopez : 6/17/2010<br>carol : 2/20/2008<br>terry : 3/16/2005<br>carol : 7/9/2002<br>carol : 7/9/2002<br>ckniffin : 7/3/2002<br>ckniffin : 7/3/2002<br>carol : 7/1/2002<br>carol : 6/7/2002<br>alopez : 5/16/2001<br>carol : 6/13/2000<br>terry : 4/6/2000<br>carol : 3/13/2000<br>alopez : 7/15/1999<br>alopez : 7/13/1999<br>carol : 12/4/1998<br>psherman : 5/4/1998<br>psherman : 5/1/1998<br>carol : 4/17/1998<br>warfield : 3/28/1994<br>supermim : 3/16/1992<br>carol : 1/30/1991<br>carol : 1/22/1991<br>supermim : 3/20/1990<br>carol : 12/19/1989
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<h3>
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<span class="mim-font">
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<strong>*</strong> 137060
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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BETA-1,4-GALACTOSYLTRANSFERASE 1; B4GALT1
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</h3>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<h4>
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<span class="mim-font">
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UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 1<br />
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GTB<br />
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GALACTOSYLTRANSFERASE 1; GT1<br />
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GLYCOPROTEIN 4-BETA-GALACTOSYLTRANSFERASE 2; GGTB2
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</h4>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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<span class="h3 mim-font">
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LACTOSE SYNTHETASE, INCLUDED
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: B4GALT1</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 725587007;
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</span>
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<strong>
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<em>
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Cytogenetic location: 9p21.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:33,104,077-33,185,089 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<tbody>
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<td rowspan="2">
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<span class="mim-font">
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9p21.1
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</td>
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<td>
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<span class="mim-font">
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Combined low LDL and fibrinogen
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</td>
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<td>
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<span class="mim-font">
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620364
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Congenital disorder of glycosylation, type IId
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</span>
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</td>
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<td>
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<span class="mim-font">
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607091
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</td>
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<td>
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<span class="mim-font">
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3
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</tbody>
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</table>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The enzyme galactosyltransferase (EC 2.4.1.38) catalyzes the reaction involving UDP-galactose and N-acetylglucosamine for the production of galactose beta-1,4-N-acetylglucosamine. The galactosyltransferase enzyme can also form a heterodimer with the regulatory protein alpha-lactalbumin to form lactose synthetase (EC 2.4.1.22). In addition to a biosynthetic role, galactosyltransferases may be components of plasma membranes where they may function in intercellular recognition and/or adhesion. Masri et al. (1988) noted that galactosyltransferase, which they called beta-1,4-galactosyltransferase, is located primarily in the trans-cisternae of the Golgi complex and exists in both membrane-bound and soluble forms. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Appert et al. (1986) cloned a galactosyltransferase cDNA by screening a human liver cDNA library with a probe based on the sequence of the purified protein. The partial cDNA did not include the putative N-terminal membrane-bound region. By screening a human placenta cDNA library with the partial galactosyltransferase cDNA isolated by Appert et al. (1986), Masri et al. (1988) cloned a full-length beta-1,4-galactosyltransferase cDNA. It encodes a predicted 400-amino acid protein with an N-terminal membrane-anchoring domain. The soluble form of the enzyme appears to result from proteolytic cleavage of the membrane-bound form at arginine-77. </p><p>By Northern blot analysis, Mengle-Gaw et al. (1991) determined that B4GALT1 was expressed as a 4.2-kb mRNA in all cell lines examined; there was a high degree of variability in expression levels among the cell lines. </p><p>By immunolocalization in human umbilical vein endothelial cells, Schnyder-Candrian et al. (2000) localized B4GALT1 with fucosyltransferase-6 (FUT6; 136836) in compact juxtanuclear structures typical of the Golgi apparatus. They noted incomplete overlap of staining. </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>Mengle-Gaw et al. (1991) reported that the galactosyltransferase gene, which they called GalTase, contains 6 exons spanning more than 50 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>Appert et al. (1986) mapped the galactosyltransferase gene to chromosome 9. Shaper et al. (1986) localized the structural gene for galactosyltransferase to 9p13 by in situ hybridization using a cloned bovine cDNA probe. On the basis of dosage effects, Furukawa et al. (1986) suggested that several galactosyltransferase genes may be located on chromosome 17 of the mouse; trisomy 17 embryos had enzyme activities almost 1.5 times higher than did diploid embryos. Furukawa et al. (1986) suggested a relationship between these galactosyltransferases and the major histocompatibility complex. </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>Lee et al. (2009) stated that B3GNT1 (605517) and B4GALT1 alternately polymerize N-acetylglucosamine and galactose residues, respectively, for the formation of poly-N-acetyllactosamine, a linear carbohydrate that can be incorporated into either N- or O-linked glycans. Using transfected HeLa and COS-1 cells for immunofluorescence and coimmunoprecipitation analysis, respectively, they found that B3GNT1 and B4GALT1 interact directly and colocalize to the Golgi. Addition of an endoplasmic reticulum (ER) retention signal to the C terminus of either enzyme caused relocalization of both to the ER. </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><strong><em>Congenital Disorder of Glycosylation Type IId</em></strong></p><p>
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In a patient with congenital disorder of glycosylation type IId (CDG2D; 607091), a severe neurologic disease characterized by a hydrocephalus, myopathy, and blood clotting defects, Hansske et al. (2002) found deficiency of B4GALT1. Analysis of oligosaccharides from serum transferrin revealed loss of sialic acid and galactose residues. In skin fibroblasts and leukocytes, galactosyltransferase activity was reduced to 5% that of controls, and a truncated polypeptide was detected in fibroblasts that was about 12 kD smaller than wildtype B4GALT1. The protein also failed to localize to the Golgi apparatus. Sequencing of the cDNA revealed a single nucleotide insertion (1031insC; 137060.0001), leading to a premature translation stop and loss of the C-terminal 50 amino acids. Expression of the mutant cDNA in COS-7 cells led to the synthesis of a truncated, inactive polypeptide which localized to the endoplasmic reticulum. </p><p>Staretz-Chacham et al. (2020) identified a homozygous missense mutation in the B4GALT1 gene (R21W; 137060.0003) in 3 members of a consanguineous Bedouin Israeli family with CDG2D. The mutation, which was identified by homozygosity mapping and whole-exome sequencing, segregated with the disorder in the family. Glycosylation analysis in serum of 2 affected individuals showed a moderate elevation of Man3GlcNAc4Fuc1. </p><p><strong><em>Combined Low LDL and Fibrinogen</em></strong></p><p>
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Montasser et al. (2021) identified an association between an Amish-enriched asn352-to-ser (N352S; 137060.0004) variant in a functional domain of the B4GALT1 gene with lower LDL cholesterol (13.9 mg/dl lower; p = 4.1 x 10-19) and lower plasma fibrinogen (29 mg/d lower mg/dl; p = 1.3 x 10-5) (CLDLFIB; 620364). The mean level of AST in N352S homozygotes was 2-fold higher than that in 352N homozygotes (35.8 vs 18.4 U/L, normal range 10-35 U/L, p = 5.9 x 10-17). Whereas 352N homozygotes had normal tri-sialo/di-oligosaccharide transferrin rations, this ratio in 352S homozygotes was abnormal (p = 9.2 x 10-10). B4GALT1 gene-based analysis in 544,955 individuals showed an association of 352S with decreased risk of coronary artery disease (OR = 0.64, p = 0.006). </p><p>To identify genetic variants in LDL-C, Montasser et al. (2021) performed whole-exome sequencing and association analysis in 6,890 Old Order Amish. Linear mixed-model association analysis identified previously ascertained loci for LDL-C as well as a novel locus on the short arm of chromosome 9. The N352S missense variant was identified in the B4GALT1 gene. The variant was located in the flexible long C-terminal region of the protein that undergoes conformational changes to allow for the exchange of the sugar molecule during glycosylation. Montasser et al. (2021) suggested that a mutation in this region may impede the necessary conformational change and effect glycosylation efficiency in the regulation of lipid metabolism and fibrinogen levels. The N352S variant had a minor allele frequency of 6% in the Old Order Amish but only 8 copies were identified in 140,000 whole-genome sequences of non-Amish individuals in the NHLBI TOPMed program. </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>Lo et al. (1998) analyzed 6 members of the B4GALT galactosyltransferase family. Northern blot analysis revealed that, among these homologs, only B4GALT1 is expressed in the mouse lactating mammary gland. They stated that B4galt1-null mice are unable to produce lactose. Thus, B4GALT1 appears to be the gene recruited for lactose biosynthesis during the evolution of mammals. </p><p>Asano et al. (1997) produced GalT-knockout mice by gene targeting. GalT-deficient mice were born normally and were fertile, but exhibited growth retardation and semilethality. Epithelial cell proliferation of the skin and small intestine was enhanced, and cell differentiation in intestinal villi was abnormal. The authors concluded that GalT is dispensable during embryonic development, but important in the regulation of proliferation and differentiation of epithelial cells after birth. </p><p>Kotani et al. (2001) studied the glycoproteins synthesized by B4GALT1 knockout mice. They observed a shift in the galactose linkages from the largely beta-1,4 linkage with GlcNAc in wildtype mice, to beta-1,3 linkage in knockout mice. This change resulted in the shift of the backbone structure from a type 2 chain to a type 1 chain. Analysis of N-glycans of plasma glycoproteins revealed a shift in sialyl linkages and oversialylated type 1 chains. These results suggested that B4GALT1 deficiency was compensated for by beta-1,3-galactosyltransferases (see B3GALT1, 603093), resulting in altered backbone structures or altered sialyl linkages on outer chains, depending on the acceptor specificities of sialyltransferases. </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>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Humphreys-Beher et al. (1986) isolated a cDNA clone for what they believed to be human 4-beta-galactosyltransferase from a human liver expression library and mapped the gene (GGTB1) to chromosome 4 by Southern analysis of a somatic cell hybrid panel. In an erratum, the authors reported that the antibody used for the isolation of the cDNA clone was not monospecific. Analysis of the complete nucleotide sequence and expression of the cDNA clone showed that it was not the catalytic enzyme. </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 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId</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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B4GALT1, 1-BP INS, 1031C
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<br />
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SNP: rs1564035076,
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ClinVar: RCV000017616
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with congenital disorder of glycosylation type IId (CDG2D; 607091), Hansske et al. (2002) identified a single nucleotide insertion at position 1031 (1031insC) of the B4GALT1 gene, resulting in a premature translation stop and loss of 50 amino acids at the C terminus. The resultant inactive protein was retained in the endoplasmic reticulum. The patient was homozygous and his parents heterozygous for the mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0002 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId</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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B4GALT1, TYR193TER
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<br />
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SNP: rs1840249855,
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ClinVar: RCV001293779
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 4-year-old girl with congenital disorder of glycosylation type IId (CDG2D; 607091), Medrano et al. (2019) identified a homozygous c.579C-G transversion (c.579C-G, NM_001497) in the B4GALT1 gene, resulting in a tyr193-to-ter (Y193X) substitution. Segregation analysis showed that the patient's mother carried the mutation but her father did not. Family microsatellite marker segregation analysis confirmed the presence of maternal isodisomy of chromosome 9, leading to homozygosity of the mutation. </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 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId</strong>
|
|
</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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B4GALT1, ARG21TRP
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<br />
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SNP: rs1065764,
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gnomAD: rs1065764,
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ClinVar: RCV001293780
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 3 members of a consanguineous Bedouin Israeli family with congenital disorder of glycosylation type IId (CDG2D; 607091), Staretz-Chacham et al. (2020) identified a homozygous c.61C-T transition (c.61C-T, NM_001497.3) in the B4GALT1 gene, resulting in an arg21-to-trp (R21W) substitution in the transmembrane domain. The mutation, which was identified by homozygosity mapping and whole-exome sequencing, segregated with the disorder in the family. The variant was present in the gnomAD database in 3 of 253,694 alleles with no homozygotes reported, and it was not found in 236 ethnically matched controls. The mutation was predicted to affect both the protein structure and function. (In the article by Staretz-Chacham et al. (2020), the mutation is designated R21W in figure 1 (E, F, G) but as R185W in the figure legend. Staretz-Chacham (2021) confirmed that R21W is correct.) </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>.0004 COMBINED LOW LDL AND FIBRINOGEN</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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B4GALT1, ASN352SER ({dbSNP rs551564683})
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<br />
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ClinVar: RCV003228703
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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>Montasser et al. (2021) identified an association between an Amish-enriched asn352-to-ser (N352S) mutation in a functional domain of the B4GALT1 gene with low LDL cholesterol and plasma fibrinogen (CLDLFIB; 620364). The variant is located in the flexible long C-terminal region of the protein that undergoes conformational changes to allow for the exchange of the sugar molecule during glycosylation. Montasser et al. (2021) suggested that a mutation in this region may impede the necessary conformational change and effect glycosylation efficiency in the regulation of lipid metabolism and fibrinogen levels. The mean level of aspartate aminotransferase (AST) in N352S homozygotes was 2-fold higher than that in 352N homozygotes (35.8 vs 18.4 U/L, normal range 10-35 U/L, p = 5.9 x 10-17). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Duncan et al. (1986); Shaper et al. (1986)
|
|
</span>
|
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<div>
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<br />
|
|
</div>
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
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<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Appert, H. E., Rutherford, T. J., Tarr, G. E., Wiest, J. S., Thomford, N. R., McCorquodale, D. J.
|
|
<strong>Isolation of a cDNA coding for human galactosyltransferase.</strong>
|
|
Biochem. Biophys. Res. Commun. 139: 163-168, 1986.
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|
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|
|
[PubMed: 3094506]
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[Full Text: https://doi.org/10.1016/s0006-291x(86)80094-8]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Appert, H., Rutherford, T., Tarr, G., Wiest, J., Thomford, N., McCorquodale, M., McCorquodale, D. J.
|
|
<strong>Isolation of a cDNA for human galactosyltransferase. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 39: A186 only, 1986.
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|
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Asano, M., Furukawa, K., Kido, M., Matsumoto, S., Umesaki, Y., Kochibe, N., Iwakura, Y.
|
|
<strong>Growth retardation and early death of beta-1,4-galactosyltransferase knockout mice with augmented proliferation and abnormal differentiation of epithelial cells.</strong>
|
|
EMBO J. 16: 1850-1857, 1997.
|
|
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|
|
[PubMed: 9155011]
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[Full Text: https://doi.org/10.1093/emboj/16.8.1850]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Duncan, A. M. V., McCorquodale, M. M., Morgan, C., Rutherford, T. J., Appert, H. E., McCorquodale, D. J.
|
|
<strong>Chromosomal localization of the gene for a human galactosyltransferase (GT-1).</strong>
|
|
Biochem. Biophys. Res. Commun. 141: 1185-1188, 1986.
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|
|
|
|
|
[PubMed: 3101678]
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|
|
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|
|
[Full Text: https://doi.org/10.1016/s0006-291x(86)80169-3]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Furukawa, K., Roth, S., Sawicki, J.
|
|
<strong>Several galactosyltransferase activities are associated with mouse chromosome 17.</strong>
|
|
Genetics 114: 983-991, 1986.
|
|
|
|
|
|
[PubMed: 3098628]
|
|
|
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|
|
[Full Text: https://doi.org/10.1093/genetics/114.3.983]
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hansske, B., Thiel, C., Lubke, T., Hasilik, M., Honing, S., Peters, V., Heidemann, P. H., Hoffmann, G. F., Berger, E. G., von Figura, K., Korner, C.
|
|
<strong>Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.</strong>
|
|
J. Clin. Invest. 109: 725-733, 2002.
|
|
|
|
|
|
[PubMed: 11901181]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI14010]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Humphreys-Beher, M. G., Bunnell, B., vanTuinen, P., Ledbetter, D. H., Kidd, V. J.
|
|
<strong>Molecular cloning and chromosomal localization of human 4-beta-galactosyltransferase.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 8918-8922, 1986. Note: Erratum: Proc. Nat. Acad. Sci. 86: 8747 only, 1989.
|
|
|
|
|
|
[PubMed: 3097639]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.83.23.8918]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kotani, N., Asano, M., Iwakura, Y., Takasaki, S.
|
|
<strong>Knockout of mouse beta-1,4-galactosyltransferase-1 gene results in a dramatic shift of outer chain moieties of N-glycans from type 2 to type 1 chains in hepatic membrane and plasma glycoproteins.</strong>
|
|
Biochem. J. 357: 827-834, 2001.
|
|
|
|
|
|
[PubMed: 11463354]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1042/0264-6021:3570827]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lee, P. L., Kohler, J. J., Pfeffer, S. R.
|
|
<strong>Association of beta-1,3-N-acetylglucosaminyltransferase 1 and beta-1,4-galactosyltransferase 1, trans-Golgi enzymes involved in coupled poly-N-acetyllactosamine synthesis.</strong>
|
|
Glycobiology 19: 655-664, 2009.
|
|
|
|
|
|
[PubMed: 19261593]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/glycob/cwp035]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lo, N.-W., Shaper, J. H., Pevsner, J., Shaper, N. L.
|
|
<strong>The expanding beta-4-galactosyltransferase gene family: messages from the databanks.</strong>
|
|
Glycobiology 8: 517-526, 1998.
|
|
|
|
|
|
[PubMed: 9597550]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/glycob/8.5.517]
|
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Masri, K. A., Appert, H. E., Fukuda, M. N.
|
|
<strong>Identification of the full-length coding sequence for human galactosyltransferase (beta-N-acetylglucosaminide: beta-1,4-galactosyltransferase).</strong>
|
|
Biochem. Biophys. Res. Commun. 157: 657-663, 1988.
|
|
|
|
|
|
[PubMed: 3144273]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0006-291x(88)80300-0]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Medrano, C., Vega, A., Navarrete, R., Ecay, M. J., Calvo, R., Pascual, S. I., Ruiz-Pons, M., Toledo, L., Garcia-Jimenez, I., Arroyo, I., Campo, A., Couce, M. L., and 18 others.
|
|
<strong>Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.</strong>
|
|
Clin. Genet. 95: 615-626, 2019.
|
|
|
|
|
|
[PubMed: 30653653]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/cge.13508]
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mengle-Gaw, L., McCoy-Haman, M. F., Tiemeier, D. C.
|
|
<strong>Genomic structure and expression of human beta-1,4-galactosyltransferase.</strong>
|
|
Biochem. Biophys. Res. Commun. 176: 1269-1276, 1991.
|
|
|
|
|
|
[PubMed: 1903938]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0006-291x(91)90423-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Montasser, M. E., Van Hout, C. V., Miloscio, L., Howard, A. D., Rosenberg, A., Callaway, M., Shen, B., Li, N., Locke, A. E., Verweij, N., De, T., Ferreira, M. A., and 27 others.
|
|
<strong>Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.</strong>
|
|
Science 374: 1221-1227, 2021.
|
|
|
|
|
|
[PubMed: 34855475]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.abe0348]
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schnyder-Candrian, S., Borsig, L., Moser, R., Berger, E. G.
|
|
<strong>Localization of alpha-1,3-fucosyltransferase VI in Weibel-Palade bodies of human endothelial cells.</strong>
|
|
Proc. Nat. Acad. Sci. 97: 8369-8374, 2000.
|
|
|
|
|
|
[PubMed: 10900002]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.97.15.8369]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shaper, N. L., Shaper, J. H., Bertness, V., Chang, H., Kirsch, I. R., Hollis, G. F.
|
|
<strong>The human galactosyltransferase gene is on chromosome 9 at band p13.</strong>
|
|
Somat. Cell Molec. Genet. 12: 633-636, 1986.
|
|
|
|
|
|
[PubMed: 3097837]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01671948]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shaper, N. L., Shaper, J. H., Meuth, J. L., Fox, J. L., Chang, H., Kirsch, I. R., Hollis, G. F.
|
|
<strong>Bovine galactosyltransferase: identification of a clone by direct immunological screening of a cDNA expression library.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 1573-1577, 1986.
|
|
|
|
|
|
[PubMed: 2419911]
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|
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|
|
[Full Text: https://doi.org/10.1073/pnas.83.6.1573]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Staretz-Chacham, O., Noyman, I., Wormser, O., Quider, A. A., Hazan, G., Morag, I., Hadar, N., Raymond, K., Birk, O. S., Ferreira, C. R., Koifman, A.
|
|
<strong>B4GALT1-congenital disorders of glycosylation: expansion of the phenotypic and molecular spectrum and review of the literature.</strong>
|
|
Clin. Genet. 97: 920-926, 2020.
|
|
|
|
|
|
[PubMed: 32157688]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/cge.13735]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Staretz-Chacham, O.
|
|
<strong>Personal Communication.</strong>
|
|
Beer Sheva, Israel 2/20/2021.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
|
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|
|
</div>
|
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Kelly A. Przylepa - updated : 05/16/2023<br>Hilary J. Vernon - updated : 03/02/2021<br>Patricia A. Hartz - updated : 08/01/2013<br>Cassandra L. Kniffin - updated : 7/9/2002<br>Patricia A. Hartz - updated : 7/1/2002<br>Wilson H. Y. Lo - updated : 4/6/2000<br>Jennifer P. Macke - updated : 7/13/1999<br>Rebekah S. Rasooly - updated : 5/4/1998
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
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<div>
|
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<br />
|
|
</div>
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<div>
|
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Victor A. McKusick : 6/25/1986
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carol : 12/14/2023<br>carol : 05/17/2023<br>carol : 05/16/2023<br>carol : 03/03/2021<br>carol : 03/02/2021<br>carol : 03/06/2018<br>carol : 03/26/2017<br>alopez : 08/01/2013<br>carol : 3/18/2013<br>alopez : 6/17/2010<br>carol : 2/20/2008<br>terry : 3/16/2005<br>carol : 7/9/2002<br>carol : 7/9/2002<br>ckniffin : 7/3/2002<br>ckniffin : 7/3/2002<br>carol : 7/1/2002<br>carol : 6/7/2002<br>alopez : 5/16/2001<br>carol : 6/13/2000<br>terry : 4/6/2000<br>carol : 3/13/2000<br>alopez : 7/15/1999<br>alopez : 7/13/1999<br>carol : 12/4/1998<br>psherman : 5/4/1998<br>psherman : 5/1/1998<br>carol : 4/17/1998<br>warfield : 3/28/1994<br>supermim : 3/16/1992<br>carol : 1/30/1991<br>carol : 1/22/1991<br>supermim : 3/20/1990<br>carol : 12/19/1989
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