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<title>
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Entry
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- *115501 - TYROSINASE-RELATED PROTEIN 1; TYRP1
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- OMIM
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</ul>
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<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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<li class="dropdown-header">
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Advanced Search
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<a href="/history"> Search History </a>
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</form>
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<p />
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</div>
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*115501</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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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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="#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 role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/115501">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 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=ENSG00000107165;t=ENST00000388918" 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=7306" 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=115501" 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=ENSG00000107165;t=ENST00000388918" 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_000550,XM_047423841" 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_000550" 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=115501" 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=00283&isoform_id=00283_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/TYRP1" 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/37513,37517,220132,1050249,1067130,2735662,4507757,12644141,30851690,37703797,37703799,47115303,119579113,119579114,119579115,119579116,194388480,2217378509,2462626305" 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/P17643" 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=7306" 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=ENSG00000107165;t=ENST00000388918" 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=TYRP1" 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=TYRP1" 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+7306" 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/TYRP1" 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:7306" 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/7306" 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=ENST00000388918.10&hgg_start=12693385&hgg_end=12710285&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:12450" 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://medlineplus.gov/genetics/gene/tyrp1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=115501[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=115501[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/TYRP1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000107165" 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=TYRP1" 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=TYRP1" 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=TYRP1" 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="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://albinismdb.med.umn.edu/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Albinism Database</a></div><div style="margin-left: 0.5em;"><a href="http://www.retina-international.org/files/sci-news/trp1mut.htm" title="Mutations of the Tyrosinase-related Protein 1 Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Mutations of the Tyrosinas…</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=TYRP1&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/PA37101" 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:12450" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:98881" 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/TYRP1#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:98881" 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/7306/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=001249,001259,001322,002061,002817" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=7306" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00009001;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00009001 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00010661;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00010661 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00015332;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00015332 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00016419;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00016419 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00021553;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00021553 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00022231;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00022231 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-040718-249" 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:7306" 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=TYRP1&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> 63450009<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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115501
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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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TYROSINASE-RELATED PROTEIN 1; TYRP1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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TYRP; TRP<br />
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CATALASE B; CATB; CAS2<br />
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GLYCOPROTEIN 75; GP75<br />
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b-PROTEIN
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</h4>
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=TYRP1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TYRP1</a></em></strong>
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Cytogenetic location: <a href="/geneMap/9/48?start=-3&limit=10&highlight=48">9p23</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:12693385-12710285&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'})">9:12,693,385-12,710,285</a> </span>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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Location
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Phenotype
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<a href="/clinicalSynopsis/table?mimNumber=612271,203290" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
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View Clinical Synopses
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<a href="/geneMap/9/48?start=-3&limit=10&highlight=48">
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9p23
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<span class="mim-font">
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[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)]
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<span class="mim-font">
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<a href="/entry/612271"> 612271 </a>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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<span class="mim-font">
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Albinism, oculocutaneous, type III
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<span class="mim-font">
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<a href="/entry/203290"> 203290 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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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/115501" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/115501" 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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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</h4>
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<div>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<p><a href="#7" class="mim-tip-reference" title="Cohen, T., Muller, R. M., Tomita, Y., Shibahara, S. <strong>Nucleotide sequence of the cDNA encoding human tyrosinase-related protein.</strong> Nucleic Acids Res. 18: 2807-2808, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2111010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2111010</a>] [<a href="https://doi.org/10.1093/nar/18.9.2807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2111010">Cohen et al. (1990)</a> reported the nucleotide and deduced amino acid sequence of the cDNA coding for the human homolog of the mouse b locus gene product. They referred to the protein as tyrosinase (<a href="/entry/606933">606933</a>)-related protein (TRP). Human TRP is shorter than the mouse Trp1 by 10 amino acids at the carboxy terminus, and the degree of sequence homology is about 93%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2111010" 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="Box, N. F., Wyeth, J. R., Mayne, C. J., O'Gorman, L. E., Martin, N. G., Sturm, R. A. <strong>Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1.</strong> Mammalian Genome 9: 50-53, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9434945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9434945</a>] [<a href="https://doi.org/10.1007/s003359900678" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9434945">Box et al. (1998)</a> determined the complete 24,667-bp sequence of the TYRP1 gene from 2 overlapping lambda clones. A LINE-1 repeat element was found immediately adjacent to and may demarcate the immediate 5-prime promoter region of the gene. Analysis of the TYRP1 gene in 100 Caucasians of varying hair color revealed no amino acid sequence variation, and no hemizygous mutant allele was found in connection with the hypopigmented phenotype of 2 patients with the 9p- syndrome (<a href="/entry/158170">158170</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9434945" 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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<br />
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<div>
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<a id="geneFunction" class="mim-anchor"></a>
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<h4 href="#mimGeneFunctionFold" id="mimGeneFunctionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimGeneFunctionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Gene Function</strong>
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<p><a href="#10" class="mim-tip-reference" title="Halaban, R., Moellmann, G. <strong>Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity.</strong> Proc. Nat. Acad. Sci. 87: 4809-4813, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1693779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1693779</a>] [<a href="https://doi.org/10.1073/pnas.87.12.4809" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1693779">Halaban and Moellmann (1990)</a> showed that the b locus protein is a catalase and is identical to a known human melanosomal protein, gp75. They referred to the protein as catalase B. The b mutation is in a heme-associated domain. The B(lt) mutation renders the protein susceptible to rapid proteolytic degradation. During melanin synthesis, hydroperoxides are produced during autooxidation of melanin precursor indoles by oxygen, and addition of catalase to tyrosinase reaction mixtures in vitro increases the yield of melanin. Absence of catalase B in b mutant melanocytes and concomitant brown instead of black coat color are indirect evidence that melanogenesis is regulated through peroxide levels in melanosomes, the subcellular organelles to which the 2 proteins, tyrosinase and catalase B, have been localized by ultrastructural immunocytochemistry. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1693779" 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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</span>
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<div>
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<br />
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<div>
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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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<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</h4>
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<p><a href="#22" class="mim-tip-reference" title="Shibahara, S., Tomita, Y., Yoshizawa, M., Shibata, K., Tagami, H. <strong>Identification of mutation in the pigment cell-specific gene located at the brown locus in mouse.</strong> Pigment Cell Res. Suppl. 2: 90-95, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1409444/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1409444</a>] [<a href="https://doi.org/10.1111/j.1600-0749.1990.tb00355.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1409444">Shibahara et al. (1992)</a> demonstrated that the b gene in the mouse is about 18 kb long and contains 8 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1409444" 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="#23" class="mim-tip-reference" title="Sturm, R. A., O'Sullivan B. J., Box, N. F., Smith, A. G., Smit, S. E., Puttick, E. R. J., Parsons, P. G., Dunn, I. S. <strong>Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family.</strong> Genomics 29: 24-34, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530077</a>] [<a href="https://doi.org/10.1006/geno.1995.1211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8530077">Sturm et al. (1995)</a> showed that the TYRP1 protein is encoded in 7 exons spread over 24 kb of genomic DNA. By contrast, the TYRP2 (<a href="/entry/191275">191275</a>) protein is encoded by 8 exons. TYRP1, TYRP2, and the tyrosinase gene share a common C-terminal membrane spanning exon. The position of intron junctions suggested that TYRP1 was derived from a TYR duplication and then was itself duplicated to give rise to the TYRP2 gene. The comparisons also suggested that at least some of the introns within the TYR, TYRP1, and TYRP2 coding regions were gained after duplication and that intron slippage was unlikely to have occurred. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530077" 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>Mapping</strong>
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<p><a href="#19" class="mim-tip-reference" title="Ramsay, M., Colman, M. A., Jenkins, T., Fox, M., Chintamaneni, C., Pickard, R., Kwon, B. <strong>The human CAS2 locus (homologous to the mouse b locus) maps to 9p22-pter. (Abstract)</strong> Cytogenet. Cell Genet. 58: 1943 only, 1991."None>Ramsay et al. (1991)</a> referred to the human gene as CAS2 since its product is thought to have catalase activity. By Southern blot analysis with 2 somatic cell hybrid lines, one with chromosome 9 as its only human component and another with 9q as its only human component, <a href="#19" class="mim-tip-reference" title="Ramsay, M., Colman, M. A., Jenkins, T., Fox, M., Chintamaneni, C., Pickard, R., Kwon, B. <strong>The human CAS2 locus (homologous to the mouse b locus) maps to 9p22-pter. (Abstract)</strong> Cytogenet. Cell Genet. 58: 1943 only, 1991."None>Ramsay et al. (1991)</a> and <a href="#6" class="mim-tip-reference" title="Chintamaneni, C. D., Ramsay, M., Colman, M.-A., Fox, M. F., Pickard, R. T., Kwon, B. S. <strong>Mapping the human CAS2 gene, the homologue of the mouse brown (b) locus, to human chromosome 9p22-pter.</strong> Biochem. Biophys. Res. Commun. 178: 227-235, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1906272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1906272</a>] [<a href="https://doi.org/10.1016/0006-291x(91)91803-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1906272">Chintamaneni et al. (1991)</a> demonstrated that CAS2 maps to 9p. This was confirmed by in situ hybridization, which demonstrated location of the gene in the region 9pter-p22. They were prompted to seek mapping on chromosome 9 because of the considerable homology between human chromosome 9 and mouse chromosome 4. By species-specific PCR in connection with human/rodent somatic cell hybrids, <a href="#1" class="mim-tip-reference" title="Abbott, C., Jackson, I. J., Carritt, B., Povey, S. <strong>The human homolog of the mouse brown gene maps to the short arm of chromosome 9 and extends the known region of homology with mouse chromosome 4.</strong> Genomics 11: 471-473, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1769662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1769662</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90160-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1769662">Abbott et al. (1991)</a> also mapped the TYRP gene to human 9p. <a href="#18" class="mim-tip-reference" title="Murty, V. V. V. S., Bouchard, B., Mathew, S., Vijayasaradhi, S., Houghton, A. N. <strong>Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization.</strong> Genomics 13: 227-229, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1577487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1577487</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90228-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1577487">Murty et al. (1992)</a> refined the assignment to 9p23. They pointed out that the 9p region has been reported to be altered nonrandomly in human melanoma, suggesting a role for the region near the TYRP locus in melanocyte transformation. However, the work of <a href="#9" class="mim-tip-reference" title="Fountain, J. W., Karayiorgou, M., Ernstoff, M. S., Kirkwood, J. M., Vlock, D. R., Titus-Ernstoff, L., Bouchard, B., Vijayasaradhi, S., Houghton, A. N., Lahti, J., Kidd, V. J., Housman, D. E., Dracopoli, N. C. <strong>Homozygous deletions within human chromosome band 9p21 in melanoma.</strong> Proc. Nat. Acad. Sci. 89: 10557-10561, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1438246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1438246</a>] [<a href="https://doi.org/10.1073/pnas.89.21.10557" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1438246">Fountain et al. (1992)</a> excluded the TYRP locus from involvement in cutaneous malignant melanoma (<a href="/entry/155600">155600</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1769662+1438246+1577487+1906272" 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>Oculocutaneous Albinism 3</em></strong></p><p>
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In an African American male with oculocutaneous albinism (OCA3; <a href="/entry/203290">203290</a>) whose cultured melanocytes showed an absence of immune-reactive TYRP1 and in whom analysis of mRNA revealed that transcription of TYRP1 was completely absent, <a href="#2" class="mim-tip-reference" title="Boissy, R. E., Zhao, H., Oetting, W. S., Austin, L. M., Wildenberg, S. C., Boissy, Y. L., Zhao, Y., Sturm, R. A., Hearing, V. J., King, R. A., Nordlund, J. J. <strong>Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as 'OCA3.'</strong> Am. J. Hum. Genet. 58: 1145-1156, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651291</a>]" pmid="8651291">Boissy et al. (1996)</a> identified homozygosity for a 1-bp deletion (A) in codon 368 of the TYRP1 gene (<a href="#0001">115501.0001</a>), resulting in premature termination at codon 384. His fraternal twin was not affected. <a href="#2" class="mim-tip-reference" title="Boissy, R. E., Zhao, H., Oetting, W. S., Austin, L. M., Wildenberg, S. C., Boissy, Y. L., Zhao, Y., Sturm, R. A., Hearing, V. J., King, R. A., Nordlund, J. J. <strong>Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as 'OCA3.'</strong> Am. J. Hum. Genet. 58: 1145-1156, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651291</a>]" pmid="8651291">Boissy et al. (1996)</a> proposed that the association of this mutation with absence of a transcript is due to decreased stability of the truncated transcript, and that a reduction in tyrosine hydroxylase activity in melanocytes from the affected twin is due to the regulatory role of TYRP1 on tyrosine hydroxylase activity of tyrosinase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8651291" 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="#16" class="mim-tip-reference" title="Manga, P., Kromberg, J. G. R., Box, N. F., Sturm, R. A., Jenkins, T., Ramsay, M. <strong>Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene.</strong> Am. J. Hum. Genet. 61: 1095-1101, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9345097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9345097</a>] [<a href="https://doi.org/10.1086/301603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9345097">Manga et al. (1997)</a> analyzed the TYRP1 gene in 19 unrelated southern African blacks with so-called 'rufous OCA (ROCA)' and identified compound heterozygosity for 368delA and a nonsense mutation (S166X; <a href="#0002">115501.0002</a>) in 17 of the 19 patients; the remaining 2 patients carried the 1-bp deletion but no mutations were identified in the other allele. <a href="#16" class="mim-tip-reference" title="Manga, P., Kromberg, J. G. R., Box, N. F., Sturm, R. A., Jenkins, T., Ramsay, M. <strong>Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene.</strong> Am. J. Hum. Genet. 61: 1095-1101, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9345097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9345097</a>] [<a href="https://doi.org/10.1086/301603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9345097">Manga et al. (1997)</a> suggested that ROCA caused by mutations in the TYRP1 gene should be designated OCA3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9345097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a consanguineous Pakistani family with OCA, <a href="#8" class="mim-tip-reference" title="Forshew, T., Khaliq, S., Tee, L., Smith, U., Johnson, C. A., Mehdi, S. Q., Maher, E. R. <strong>Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. (Letter)</strong> Clin. Genet. 68: 182-184, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15996218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15996218</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2005.00460.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15996218">Forshew et al. (2005)</a> identified homozygosity for a nonsense mutation in the TYRP1 gene (<a href="#0003">115501.0003</a>). The authors stated that this was the first TYRP1 mutation in non-Africans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15996218" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Caucasian German boy with OCA, who was negative for mutations in the TYR (<a href="/entry/606933">606933</a>) and OCA2 genes, <a href="#20" class="mim-tip-reference" title="Rooryck, C., Roudaut, C., Robine, E., Musebeck, J., Arveiler, B. <strong>Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.</strong> Pigment Cell Res. 19: 239-242, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16704458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16704458</a>] [<a href="https://doi.org/10.1111/j.1600-0749.2006.00298.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16704458">Rooryck et al. (2006)</a> identified compound heterozygosity for a missense mutation (R356E; <a href="#0004">115501.0004</a>) and a 1-bp deletion (106delT; <a href="#0005">115501.0005</a>) in the TYRP1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16704458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a boy of Asian Indian origin with reddish hair, brown irides, nystagmus, and lightly pigmented skin, who was negative for mutations in the TYR, OCA2, and SLC45A2 (<a href="/entry/606202">606202</a>) genes, <a href="#5" class="mim-tip-reference" title="Chiang, P.-W., Spector, E., Scheuerle, A. <strong>A case of Asian Indian OCA3 patient. (Letter)</strong> Am. J. Med. Genet. 149A: 1578-1580, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19533799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19533799</a>] [<a href="https://doi.org/10.1002/ajmg.a.32930" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19533799">Chiang et al. (2009)</a> identified homozygosity for a 4-bp deletion in the TYRP1 gene (<a href="#0006">115501.0006</a>). The unaffected parents were both heterozygous for the deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19533799" 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>Skin/Hair/Eye Pigmentation, Variation in, 11</em></strong></p><p>
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For discussion of an association between variation in the TYRP1 gene and variation in skin, hair, and/or eye pigmentation, see SHEP11 (<a href="/entry/612271">612271</a>).</p><p><strong><em>Melanesian Blond Hair</em></strong></p><p>
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In individuals from the Solomon Islands with blond hair (see <a href="/entry/612271">612271</a>), <a href="#13" class="mim-tip-reference" title="Kenny, E. E., Timpson, N. J., Sikora, M., Yee, M.-C., Moreno-Estrada, A., Eng, C., Huntsman, S., Gonzalez Burchard, E., Stoneking, M., Bustamante, C. D., Myles, S. <strong>Melanesian blond hair is caused by an amino acid change in TYRP1.</strong> Science 336: 554 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22556244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22556244</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22556244[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1217849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22556244">Kenny et al. (2012)</a> identified homozygosity for an arg-to-cys substitution at codon 93 of the TYRP1 gene (R93C; <a href="#0007">115501.0007</a>). <a href="#13" class="mim-tip-reference" title="Kenny, E. E., Timpson, N. J., Sikora, M., Yee, M.-C., Moreno-Estrada, A., Eng, C., Huntsman, S., Gonzalez Burchard, E., Stoneking, M., Bustamante, C. D., Myles, S. <strong>Melanesian blond hair is caused by an amino acid change in TYRP1.</strong> Science 336: 554 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22556244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22556244</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22556244[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1217849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22556244">Kenny et al. (2012)</a> noted similarity between the R93C mutation in humans and the mutation underlying the brown(light) phenotype of the mouse, R38C. The brown(light) mouse exhibits reduced Tyrp1 stability and catalytic function, resulting in decreased melanin content in hair, and <a href="#13" class="mim-tip-reference" title="Kenny, E. E., Timpson, N. J., Sikora, M., Yee, M.-C., Moreno-Estrada, A., Eng, C., Huntsman, S., Gonzalez Burchard, E., Stoneking, M., Bustamante, C. D., Myles, S. <strong>Melanesian blond hair is caused by an amino acid change in TYRP1.</strong> Science 336: 554 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22556244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22556244</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22556244[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1217849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22556244">Kenny et al. (2012)</a> considered it likely that the human R93C mutation operates via a similar mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22556244" 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="#22" class="mim-tip-reference" title="Shibahara, S., Tomita, Y., Yoshizawa, M., Shibata, K., Tagami, H. <strong>Identification of mutation in the pigment cell-specific gene located at the brown locus in mouse.</strong> Pigment Cell Res. Suppl. 2: 90-95, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1409444/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1409444</a>] [<a href="https://doi.org/10.1111/j.1600-0749.1990.tb00355.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1409444">Shibahara et al. (1992)</a> found 2 missense mutations, a cys-to-tyr substitution at position 86 (codon 110) and an arg-to-cys substitution at position 302 (codon 326), in 2 b-mutant mouse strains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1409444" 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="#12" class="mim-tip-reference" title="Johnson, R., Jackson, I. J. <strong>Light is a dominant mouse mutation resulting in premature cell death.</strong> Nature Genet. 1: 226-229, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303241</a>] [<a href="https://doi.org/10.1038/ng0692-226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303241">Johnson and Jackson (1992)</a> characterized 'light,' a dominant mutant allele at the mouse 'brown' locus. The mutation results in hairs pigmented only at their tips. They showed that the phenotype is due to premature melanocyte death and, by sequencing the tyrosinase-related protein-1 cDNA from light mice, demonstrated a single base alteration causing an arg-to-cys change in the protein. Premature melanocyte death occurred only in pigmented mice, indicating that the cell death is mediated through the inherent cytotoxicity of pigment production. They suggested that this gene should be studied as a candidate gene in premature graying in humans (<a href="/entry/139100">139100</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The brown(light) phenotype is caused by an arg38-to-cys substitution (R38C) that is thought to interfere with disulfide bridges formed by the 15-cys EGF repeat near the N terminus of the Tyrp1 protein (summary by <a href="#13" class="mim-tip-reference" title="Kenny, E. E., Timpson, N. J., Sikora, M., Yee, M.-C., Moreno-Estrada, A., Eng, C., Huntsman, S., Gonzalez Burchard, E., Stoneking, M., Bustamante, C. D., Myles, S. <strong>Melanesian blond hair is caused by an amino acid change in TYRP1.</strong> Science 336: 554 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22556244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22556244</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22556244[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1217849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22556244">Kenny et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22556244" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Schmidt-Kuntzel, A., Eizirik, E., O'Brien, S. J., Menotti-Raymond, M. <strong>Tyrosinase and tyrosinase related protein I alleles specify domestic cat coat color phenotypes of the albino and brown loci.</strong> J. Hered. 96: 289-301, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15858157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15858157</a>] [<a href="https://doi.org/10.1093/jhered/esi066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15858157">Schmidt-Kuntzel et al. (2005)</a> found that sequence variants in the Tyrp1 gene caused the 'chocolate' and 'cinnamon' alleles of the brown locus in domestic cats. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15858157" 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 second tyrosinase-related protein exists (TYRP2; <a href="/entry/191275">191275</a>), the mouse homolog of which is encoded on chromosome 14 and is the site of the 'slaty' mutation.</p>
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<p><a href="#15" class="mim-tip-reference" title="Kwon, B. S., Halaban, R., Chintamaneni, C. <strong>Molecular basis of mouse Himalayan mutation.</strong> Biochem. Biophys. Res. Commun. 161: 252-260, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2567165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2567165</a>] [<a href="https://doi.org/10.1016/0006-291x(89)91588-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2567165">Kwon et al. (1989)</a> isolated 2 melanocyte-specific cDNAs and ascribed both to tyrosinase (<a href="/entry/606933">606933</a>). Based on deduced amino acid sequence, both code for glycoproteins of similar size, with a membrane-spanning domain and conserved positions of cysteine and histidine. One clone was assigned to the brown (b) locus on mouse chromosome 4 (<a href="#11" class="mim-tip-reference" title="Jackson, I. J. <strong>A cDNA encoding tyrosinase-related protein maps to the brown locus in mouse.</strong> Proc. Nat. Acad. Sci. 85: 4392-4396, 1988. Note: Erratum: Proc. Nat. Acad. Sci. 86: 997 only, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3132713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3132713</a>] [<a href="https://doi.org/10.1073/pnas.85.12.4392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3132713">Jackson, 1988</a>); the other, to the c locus on mouse chromosome 7 and to human chromosome 11 (tyrosinase). The mutant b allele confers brown coat color, and the B(lt) allele confers an almost white color to normally black mice. Transfected wildtype c locus cDNA induced tyrosinase activity and melanin synthesis in fibroblasts, amelanotic melanoma cells, albino melanocytes, and albino transgenic mice, whereas wildtype b locus cDNA did not. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2567165+3132713" 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>Evidence suggested that the 'brown albinism' mutation (<a href="/entry/203200">203200</a>) was homologous to 'brown' in the mouse (<a href="#14" class="mim-tip-reference" title="King, R. A. <strong>Personal Communication.</strong> Minneapolis, Minn. 12/31/1992."None>King, 1992</a>). Brown oculocutaneous albinism in humans results from mutation in the OCA2 gene (<a href="/entry/611409">611409</a>).</p>
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<strong>.0001 ALBINISM, OCULOCUTANEOUS, TYPE III</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">rs387906560 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906560;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=rs387906560" 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=rs387906560" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an African American fraternal twin with type III oculocutaneous albinism (OCA3; <a href="/entry/203290">203290</a>), <a href="#2" class="mim-tip-reference" title="Boissy, R. E., Zhao, H., Oetting, W. S., Austin, L. M., Wildenberg, S. C., Boissy, Y. L., Zhao, Y., Sturm, R. A., Hearing, V. J., King, R. A., Nordlund, J. J. <strong>Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as 'OCA3.'</strong> Am. J. Hum. Genet. 58: 1145-1156, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651291</a>]" pmid="8651291">Boissy et al. (1996)</a> found a homozygous 1-bp deletion (A) in codon 368 in exon 6 of the TYRP1 gene, which led to a premature stop at codon 384. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8651291" 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="#16" class="mim-tip-reference" title="Manga, P., Kromberg, J. G. R., Box, N. F., Sturm, R. A., Jenkins, T., Ramsay, M. <strong>Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene.</strong> Am. J. Hum. Genet. 61: 1095-1101, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9345097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9345097</a>] [<a href="https://doi.org/10.1086/301603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9345097">Manga et al. (1997)</a> analyzed the TYRP1 gene in 19 unrelated southern African blacks with so-called 'rufous' OCA (ROCA) and identified compound heterozygosity for 368delA and a ser166-to-ter nonsense mutation (S166X; <a href="#0002">115501.0002</a>) in 17 of the 19 patients; the remaining 2 patients carried the 1-bp deletion but no mutations were identified in the other allele. In 1 family, 2 sibs with a phenotypically unclassified form of albinism who were compound heterozygotes for 368delA and S166X in TYRP1 were also found to be heterozygous for the common 2.7-kb mutation at the P locus (OCA2; <a href="/entry/611409#0001">611409.0001</a>). <a href="#16" class="mim-tip-reference" title="Manga, P., Kromberg, J. G. R., Box, N. F., Sturm, R. A., Jenkins, T., Ramsay, M. <strong>Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene.</strong> Am. J. Hum. Genet. 61: 1095-1101, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9345097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9345097</a>] [<a href="https://doi.org/10.1086/301603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9345097">Manga et al. (1997)</a> suggested that ROCA caused by mutations in the TYRP1 gene should be designated OCA3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9345097" 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 ALBINISM, OCULOCUTANEOUS, TYPE III</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> rs104894130 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894130;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/rs104894130?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=rs104894130" 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=rs104894130" 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=RCV000019159 OR RCV000019160 OR RCV000373290 OR RCV004752712 OR RCV005042064" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019159, RCV000019160, RCV000373290, RCV004752712, RCV005042064" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019159...</a>
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<p>For discussion of the ser166-to-ter (S166X) mutation in the TYRP1 gene that was found in compound heterozygous state in patients with rufous oculocutaneous albinism (ROCA; <a href="/entry/203290">203290</a>) by <a href="#16" class="mim-tip-reference" title="Manga, P., Kromberg, J. G. R., Box, N. F., Sturm, R. A., Jenkins, T., Ramsay, M. <strong>Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene.</strong> Am. J. Hum. Genet. 61: 1095-1101, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9345097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9345097</a>] [<a href="https://doi.org/10.1086/301603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9345097">Manga et al. (1997)</a>, see <a href="#0001">115501.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9345097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Chiang, P.-W., Fulton, A. B., Spector, E., Hisama, F. M. <strong>Synergistic interaction of the OCA2 and OCA3 genes in a family. (Letter)</strong> Am. J. Med. Genet. 146A: 2427-2430, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18680187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18680187</a>] [<a href="https://doi.org/10.1002/ajmg.a.32453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18680187">Chiang et al. (2008)</a> reported a Hispanic girl with oculocutaneous albinism type II (OCA2; <a href="/entry/203200">203200</a>) caused by compound heterozygous mutations in the OCA2 gene (<a href="/entry/611409">611409</a>). She had pale skin, blue irides, and visual defects, including horizontal nystagmus, irides that transilluminated light, absence of foveal reflexes, albinotic fundi, and decreased visual acuity. However, she also had curly reddish-blonde hair, which was unusual for the OCA2 phenotype. The unaffected mother was of Puerto Rican and Cuban descent, and the unaffected father was of Dominican and Ecuadorian descent. Each parent was heterozygous for an OCA2 mutation. Further genetic analysis identified heterozygosity for the S166X mutation in the TYRP1 gene in the girl and her father. The father, who had haploinsufficiency at the OCA2 and TYRP1 loci together, did not have a noticeable phenotype. <a href="#4" class="mim-tip-reference" title="Chiang, P.-W., Fulton, A. B., Spector, E., Hisama, F. M. <strong>Synergistic interaction of the OCA2 and OCA3 genes in a family. (Letter)</strong> Am. J. Med. Genet. 146A: 2427-2430, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18680187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18680187</a>] [<a href="https://doi.org/10.1002/ajmg.a.32453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18680187">Chiang et al. (2008)</a> concluded that haploinsufficiency of TYRP1 can modify the OCA2 phenotype, resulting in red hair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18680187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121912778 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912778;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/rs121912778?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=rs121912778" 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=rs121912778" 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=RCV000019161 OR RCV001781283 OR RCV005042065" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019161, RCV001781283, RCV005042065" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019161...</a>
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<p>In a consanguineous Pakistani family with oculocutaneous albinism (OCA3; <a href="/entry/203290">203290</a>), <a href="#8" class="mim-tip-reference" title="Forshew, T., Khaliq, S., Tee, L., Smith, U., Johnson, C. A., Mehdi, S. Q., Maher, E. R. <strong>Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. (Letter)</strong> Clin. Genet. 68: 182-184, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15996218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15996218</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2005.00460.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15996218">Forshew et al. (2005)</a> identified homozygosity for a 1117C-T transition in exon 6 of the TYRP1 gene, resulting in an arg373-to-ter (R373X) substitution. The authors stated that this was the first TYRP1 mutation reported in non-Africans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15996218" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs281865424 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs281865424;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/rs281865424?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=rs281865424" 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=rs281865424" 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=RCV000019162 OR RCV000755096 OR RCV001851935 OR RCV002476990 OR RCV003390690" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019162, RCV000755096, RCV001851935, RCV002476990, RCV003390690" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019162...</a>
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<p>In a Caucasian German boy with oculocutaneous albinism (OCA3; <a href="/entry/203290">203290</a>), <a href="#20" class="mim-tip-reference" title="Rooryck, C., Roudaut, C., Robine, E., Musebeck, J., Arveiler, B. <strong>Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.</strong> Pigment Cell Res. 19: 239-242, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16704458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16704458</a>] [<a href="https://doi.org/10.1111/j.1600-0749.2006.00298.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16704458">Rooryck et al. (2006)</a> identified compound heterozygosity for mutations in the TYRP1 gene: a 1066G-A transition in exon 5, resulting in an arg356-to-glu (R356E) substitution, and a de novo 1-bp deletion (106delT; <a href="#0005">115501.0005</a>) in exon 2, resulting in an immediate termination sequence at codon 36. The patient had yellow-gold hair with orange highlights, fair eyelashes, blue-green eyes with defects of the iris and nystagmus, several pigmented nevi, and pale yellow skin that did not tan but burned easily. The patient's unaffected mother and sister were heterozygous for the missense mutation, which was not found in 100 unrelated controls; the 1-bp deletion was not found in either parent or the sister. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16704458" 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>.0005 ALBINISM, OCULOCUTANEOUS, TYPE III</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">rs387906561 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906561;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=rs387906561" 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=rs387906561" 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=RCV000019163" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019163" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019163</a>
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<p>For discussion of the 1-bp deletion in the TYRP1 gene (106delT) that was found in compound heterozygous state in a patient with oculocutaneous albinism (OCA3; <a href="/entry/203290">203290</a>) by <a href="#20" class="mim-tip-reference" title="Rooryck, C., Roudaut, C., Robine, E., Musebeck, J., Arveiler, B. <strong>Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.</strong> Pigment Cell Res. 19: 239-242, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16704458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16704458</a>] [<a href="https://doi.org/10.1111/j.1600-0749.2006.00298.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16704458">Rooryck et al. (2006)</a>, see <a href="#0004">115501.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16704458" 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">rs387906562 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906562;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=rs387906562" 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=rs387906562" 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=RCV000019164 OR RCV001380027 OR RCV002490389 OR RCV004752713" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019164, RCV001380027, RCV002490389, RCV004752713" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019164...</a>
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<p>In a boy of Asian Indian origin with oculocutaneous albinism (OCA3; <a href="/entry/203290">203290</a>), who had reddish hair color, brown irides, nystagmus, and lightly pigmented skin, <a href="#5" class="mim-tip-reference" title="Chiang, P.-W., Spector, E., Scheuerle, A. <strong>A case of Asian Indian OCA3 patient. (Letter)</strong> Am. J. Med. Genet. 149A: 1578-1580, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19533799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19533799</a>] [<a href="https://doi.org/10.1002/ajmg.a.32930" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19533799">Chiang et al. (2009)</a> identified homozygosity for a 4-bp deletion (1057delAACA) in exon 5 of the TYRP1 gene. The unaffected parents were heterozygous for the deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19533799" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387907171 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907171;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/rs387907171?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=rs387907171" 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=rs387907171" 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=RCV000024318 OR RCV001048857" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024318, RCV001048857" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024318...</a>
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<p>In individuals from the Solomon Islands with blond hair (<a href="/entry/612271">612271</a>), <a href="#13" class="mim-tip-reference" title="Kenny, E. E., Timpson, N. J., Sikora, M., Yee, M.-C., Moreno-Estrada, A., Eng, C., Huntsman, S., Gonzalez Burchard, E., Stoneking, M., Bustamante, C. D., Myles, S. <strong>Melanesian blond hair is caused by an amino acid change in TYRP1.</strong> Science 336: 554 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22556244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22556244</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22556244[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1217849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22556244">Kenny et al. (2012)</a> identified homozygosity for a C-to-T transition at chr9:12,694,273 (GRCh37) that corresponds to a predicted arg93-to-cys (R93C) mutation in exon 2 of the TYRP1 gene. The genotype was TT in blond-haired and CT or CC in dark-haired individuals. This mutation was present with an allele frequency of 0.26 on the Solomon Islands and was absent from 941 individuals from 52 worldwide populations. No evidence of European admixture was detected in this population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22556244" 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="#Muller1988" class="mim-tip-reference" title="Muller, G., Ruppert, S., Schmid, E., Schutz, G. <strong>Functional analysis of alternatively spliced tyrosinase gene transcripts.</strong> EMBO J. 7: 2723-2730, 1988.">Muller et al. (1988)</a>
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[<a href="https://doi.org/10.1002/ajmg.a.32930" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/nar/18.9.2807" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.1217849" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0006-291x(89)91588-x" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1577487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1577487</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1577487" 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/10.1016/0888-7543(92)90228-k" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Ramsay1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Ramsay, M., Colman, M. A., Jenkins, T., Fox, M., Chintamaneni, C., Pickard, R., Kwon, B.
|
|
<strong>The human CAS2 locus (homologous to the mouse b locus) maps to 9p22-pter. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 58: 1943 only, 1991.
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</p>
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</div>
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</li>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Rooryck2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rooryck, C., Roudaut, C., Robine, E., Musebeck, J., Arveiler, B.
|
|
<strong>Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.</strong>
|
|
Pigment Cell Res. 19: 239-242, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16704458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16704458</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16704458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1600-0749.2006.00298.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Schmidt-Kuntzel2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schmidt-Kuntzel, A., Eizirik, E., O'Brien, S. J., Menotti-Raymond, M.
|
|
<strong>Tyrosinase and tyrosinase related protein I alleles specify domestic cat coat color phenotypes of the albino and brown loci.</strong>
|
|
J. Hered. 96: 289-301, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15858157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15858157</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15858157" 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/jhered/esi066" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Shibahara1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Shibahara, S., Tomita, Y., Yoshizawa, M., Shibata, K., Tagami, H.
|
|
<strong>Identification of mutation in the pigment cell-specific gene located at the brown locus in mouse.</strong>
|
|
Pigment Cell Res. Suppl. 2: 90-95, 1992.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1409444/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1409444</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1409444" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1600-0749.1990.tb00355.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="23" class="mim-anchor"></a>
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<a id="Sturm1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sturm, R. A., O'Sullivan B. J., Box, N. F., Smith, A. G., Smit, S. E., Puttick, E. R. J., Parsons, P. G., Dunn, I. S.
|
|
<strong>Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family.</strong>
|
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Genomics 29: 24-34, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530077</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530077" 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/10.1006/geno.1995.1211" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 5/30/2012
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 12/4/2009<br>Cassandra L. Kniffin - updated : 3/3/2009<br>Ada Hamosh - updated : 8/6/2008<br>Marla J. F. O'Neill - updated : 5/24/2006<br>Patricia A. Hartz - updated : 12/13/2005<br>Victor A. McKusick - updated : 2/19/1998<br>Victor A. McKusick - updated : 11/26/1997<br>Moyra Smith - updated : 6/18/1996
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 8/24/1990
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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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 : 12/05/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/19/2015<br>mcolton : 8/4/2015<br>carol : 9/18/2013<br>joanna : 6/1/2012<br>alopez : 5/31/2012<br>terry : 5/30/2012<br>carol : 12/23/2009<br>terry : 12/4/2009<br>wwang : 4/15/2009<br>ckniffin : 3/3/2009<br>alopez : 9/5/2008<br>alopez : 9/4/2008<br>terry : 8/6/2008<br>terry : 6/23/2006<br>wwang : 5/31/2006<br>terry : 5/24/2006<br>wwang : 12/20/2005<br>wwang : 12/13/2005<br>ckniffin : 5/29/2002<br>terry : 2/21/2000<br>terry : 2/9/2000<br>mark : 2/25/1998<br>terry : 2/19/1998<br>terry : 2/19/1998<br>terry : 12/3/1997<br>terry : 11/26/1997<br>mark : 11/27/1996<br>carol : 6/18/1996<br>mark : 10/4/1995<br>terry : 1/27/1995<br>jason : 6/7/1994<br>warfield : 4/7/1994<br>pfoster : 3/25/1994<br>mimadm : 2/11/1994
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 115501
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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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TYROSINASE-RELATED PROTEIN 1; TYRP1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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TYRP; TRP<br />
|
|
CATALASE B; CATB; CAS2<br />
|
|
GLYCOPROTEIN 75; GP75<br />
|
|
b-PROTEIN
|
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</span>
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: TYRP1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 63450009;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: 9p23
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:12,693,385-12,710,285 </span>
|
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</em>
|
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</strong>
|
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
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Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
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<tr>
|
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<td rowspan="2">
|
|
<span class="mim-font">
|
|
9p23
|
|
</span>
|
|
</td>
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)]
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
612271
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
3
|
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</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Albinism, oculocutaneous, type III
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
203290
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
|
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</div>
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<div>
|
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|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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|
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<span class="mim-text-font">
|
|
<p>Cohen et al. (1990) reported the nucleotide and deduced amino acid sequence of the cDNA coding for the human homolog of the mouse b locus gene product. They referred to the protein as tyrosinase (606933)-related protein (TRP). Human TRP is shorter than the mouse Trp1 by 10 amino acids at the carboxy terminus, and the degree of sequence homology is about 93%. </p><p>Box et al. (1998) determined the complete 24,667-bp sequence of the TYRP1 gene from 2 overlapping lambda clones. A LINE-1 repeat element was found immediately adjacent to and may demarcate the immediate 5-prime promoter region of the gene. Analysis of the TYRP1 gene in 100 Caucasians of varying hair color revealed no amino acid sequence variation, and no hemizygous mutant allele was found in connection with the hypopigmented phenotype of 2 patients with the 9p- syndrome (158170). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
<span class="mim-text-font">
|
|
<p>Halaban and Moellmann (1990) showed that the b locus protein is a catalase and is identical to a known human melanosomal protein, gp75. They referred to the protein as catalase B. The b mutation is in a heme-associated domain. The B(lt) mutation renders the protein susceptible to rapid proteolytic degradation. During melanin synthesis, hydroperoxides are produced during autooxidation of melanin precursor indoles by oxygen, and addition of catalase to tyrosinase reaction mixtures in vitro increases the yield of melanin. Absence of catalase B in b mutant melanocytes and concomitant brown instead of black coat color are indirect evidence that melanogenesis is regulated through peroxide levels in melanosomes, the subcellular organelles to which the 2 proteins, tyrosinase and catalase B, have been localized by ultrastructural immunocytochemistry. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
<span class="mim-text-font">
|
|
<p>Shibahara et al. (1992) demonstrated that the b gene in the mouse is about 18 kb long and contains 8 exons. </p><p>Sturm et al. (1995) showed that the TYRP1 protein is encoded in 7 exons spread over 24 kb of genomic DNA. By contrast, the TYRP2 (191275) protein is encoded by 8 exons. TYRP1, TYRP2, and the tyrosinase gene share a common C-terminal membrane spanning exon. The position of intron junctions suggested that TYRP1 was derived from a TYR duplication and then was itself duplicated to give rise to the TYRP2 gene. The comparisons also suggested that at least some of the introns within the TYR, TYRP1, and TYRP2 coding regions were gained after duplication and that intron slippage was unlikely to have occurred. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
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<p>Ramsay et al. (1991) referred to the human gene as CAS2 since its product is thought to have catalase activity. By Southern blot analysis with 2 somatic cell hybrid lines, one with chromosome 9 as its only human component and another with 9q as its only human component, Ramsay et al. (1991) and Chintamaneni et al. (1991) demonstrated that CAS2 maps to 9p. This was confirmed by in situ hybridization, which demonstrated location of the gene in the region 9pter-p22. They were prompted to seek mapping on chromosome 9 because of the considerable homology between human chromosome 9 and mouse chromosome 4. By species-specific PCR in connection with human/rodent somatic cell hybrids, Abbott et al. (1991) also mapped the TYRP gene to human 9p. Murty et al. (1992) refined the assignment to 9p23. They pointed out that the 9p region has been reported to be altered nonrandomly in human melanoma, suggesting a role for the region near the TYRP locus in melanocyte transformation. However, the work of Fountain et al. (1992) excluded the TYRP locus from involvement in cutaneous malignant melanoma (155600). </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>Oculocutaneous Albinism 3</em></strong></p><p>
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In an African American male with oculocutaneous albinism (OCA3; 203290) whose cultured melanocytes showed an absence of immune-reactive TYRP1 and in whom analysis of mRNA revealed that transcription of TYRP1 was completely absent, Boissy et al. (1996) identified homozygosity for a 1-bp deletion (A) in codon 368 of the TYRP1 gene (115501.0001), resulting in premature termination at codon 384. His fraternal twin was not affected. Boissy et al. (1996) proposed that the association of this mutation with absence of a transcript is due to decreased stability of the truncated transcript, and that a reduction in tyrosine hydroxylase activity in melanocytes from the affected twin is due to the regulatory role of TYRP1 on tyrosine hydroxylase activity of tyrosinase. </p><p>Manga et al. (1997) analyzed the TYRP1 gene in 19 unrelated southern African blacks with so-called 'rufous OCA (ROCA)' and identified compound heterozygosity for 368delA and a nonsense mutation (S166X; 115501.0002) in 17 of the 19 patients; the remaining 2 patients carried the 1-bp deletion but no mutations were identified in the other allele. Manga et al. (1997) suggested that ROCA caused by mutations in the TYRP1 gene should be designated OCA3. </p><p>In a consanguineous Pakistani family with OCA, Forshew et al. (2005) identified homozygosity for a nonsense mutation in the TYRP1 gene (115501.0003). The authors stated that this was the first TYRP1 mutation in non-Africans. </p><p>In a Caucasian German boy with OCA, who was negative for mutations in the TYR (606933) and OCA2 genes, Rooryck et al. (2006) identified compound heterozygosity for a missense mutation (R356E; 115501.0004) and a 1-bp deletion (106delT; 115501.0005) in the TYRP1 gene. </p><p>In a boy of Asian Indian origin with reddish hair, brown irides, nystagmus, and lightly pigmented skin, who was negative for mutations in the TYR, OCA2, and SLC45A2 (606202) genes, Chiang et al. (2009) identified homozygosity for a 4-bp deletion in the TYRP1 gene (115501.0006). The unaffected parents were both heterozygous for the deletion. </p><p><strong><em>Skin/Hair/Eye Pigmentation, Variation in, 11</em></strong></p><p>
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|
For discussion of an association between variation in the TYRP1 gene and variation in skin, hair, and/or eye pigmentation, see SHEP11 (612271).</p><p><strong><em>Melanesian Blond Hair</em></strong></p><p>
|
|
In individuals from the Solomon Islands with blond hair (see 612271), Kenny et al. (2012) identified homozygosity for an arg-to-cys substitution at codon 93 of the TYRP1 gene (R93C; 115501.0007). Kenny et al. (2012) noted similarity between the R93C mutation in humans and the mutation underlying the brown(light) phenotype of the mouse, R38C. The brown(light) mouse exhibits reduced Tyrp1 stability and catalytic function, resulting in decreased melanin content in hair, and Kenny et al. (2012) considered it likely that the human R93C mutation operates via a similar mechanism. </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>Shibahara et al. (1992) found 2 missense mutations, a cys-to-tyr substitution at position 86 (codon 110) and an arg-to-cys substitution at position 302 (codon 326), in 2 b-mutant mouse strains. </p><p>Johnson and Jackson (1992) characterized 'light,' a dominant mutant allele at the mouse 'brown' locus. The mutation results in hairs pigmented only at their tips. They showed that the phenotype is due to premature melanocyte death and, by sequencing the tyrosinase-related protein-1 cDNA from light mice, demonstrated a single base alteration causing an arg-to-cys change in the protein. Premature melanocyte death occurred only in pigmented mice, indicating that the cell death is mediated through the inherent cytotoxicity of pigment production. They suggested that this gene should be studied as a candidate gene in premature graying in humans (139100). </p><p>The brown(light) phenotype is caused by an arg38-to-cys substitution (R38C) that is thought to interfere with disulfide bridges formed by the 15-cys EGF repeat near the N terminus of the Tyrp1 protein (summary by Kenny et al., 2012). </p><p>Schmidt-Kuntzel et al. (2005) found that sequence variants in the Tyrp1 gene caused the 'chocolate' and 'cinnamon' alleles of the brown locus in domestic cats. </p><p>A second tyrosinase-related protein exists (TYRP2; 191275), the mouse homolog of which is encoded on chromosome 14 and is the site of the 'slaty' mutation.</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>Kwon et al. (1989) isolated 2 melanocyte-specific cDNAs and ascribed both to tyrosinase (606933). Based on deduced amino acid sequence, both code for glycoproteins of similar size, with a membrane-spanning domain and conserved positions of cysteine and histidine. One clone was assigned to the brown (b) locus on mouse chromosome 4 (Jackson, 1988); the other, to the c locus on mouse chromosome 7 and to human chromosome 11 (tyrosinase). The mutant b allele confers brown coat color, and the B(lt) allele confers an almost white color to normally black mice. Transfected wildtype c locus cDNA induced tyrosinase activity and melanin synthesis in fibroblasts, amelanotic melanoma cells, albino melanocytes, and albino transgenic mice, whereas wildtype b locus cDNA did not. </p><p>Evidence suggested that the 'brown albinism' mutation (203200) was homologous to 'brown' in the mouse (King, 1992). Brown oculocutaneous albinism in humans results from mutation in the OCA2 gene (611409).</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">
|
|
<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>7 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">
|
|
<strong>.0001 ALBINISM, OCULOCUTANEOUS, TYPE III</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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TYRP1, 1-BP DEL, 368A
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<br />
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SNP: rs387906560,
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ClinVar: RCV000019158, RCV000504733, RCV000724728, RCV002482887
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In an African American fraternal twin with type III oculocutaneous albinism (OCA3; 203290), Boissy et al. (1996) found a homozygous 1-bp deletion (A) in codon 368 in exon 6 of the TYRP1 gene, which led to a premature stop at codon 384. </p><p>Manga et al. (1997) analyzed the TYRP1 gene in 19 unrelated southern African blacks with so-called 'rufous' OCA (ROCA) and identified compound heterozygosity for 368delA and a ser166-to-ter nonsense mutation (S166X; 115501.0002) in 17 of the 19 patients; the remaining 2 patients carried the 1-bp deletion but no mutations were identified in the other allele. In 1 family, 2 sibs with a phenotypically unclassified form of albinism who were compound heterozygotes for 368delA and S166X in TYRP1 were also found to be heterozygous for the common 2.7-kb mutation at the P locus (OCA2; 611409.0001). Manga et al. (1997) suggested that ROCA caused by mutations in the TYRP1 gene should be designated OCA3. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0002 ALBINISM, OCULOCUTANEOUS, TYPE III</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">
|
|
ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF, INCLUDED
|
|
</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
|
TYRP1, SER166TER
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<br />
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|
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SNP: rs104894130,
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|
gnomAD: rs104894130,
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|
|
ClinVar: RCV000019159, RCV000019160, RCV000373290, RCV004752712, RCV005042064
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|
</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the ser166-to-ter (S166X) mutation in the TYRP1 gene that was found in compound heterozygous state in patients with rufous oculocutaneous albinism (ROCA; 203290) by Manga et al. (1997), see 115501.0001. </p><p>Chiang et al. (2008) reported a Hispanic girl with oculocutaneous albinism type II (OCA2; 203200) caused by compound heterozygous mutations in the OCA2 gene (611409). She had pale skin, blue irides, and visual defects, including horizontal nystagmus, irides that transilluminated light, absence of foveal reflexes, albinotic fundi, and decreased visual acuity. However, she also had curly reddish-blonde hair, which was unusual for the OCA2 phenotype. The unaffected mother was of Puerto Rican and Cuban descent, and the unaffected father was of Dominican and Ecuadorian descent. Each parent was heterozygous for an OCA2 mutation. Further genetic analysis identified heterozygosity for the S166X mutation in the TYRP1 gene in the girl and her father. The father, who had haploinsufficiency at the OCA2 and TYRP1 loci together, did not have a noticeable phenotype. Chiang et al. (2008) concluded that haploinsufficiency of TYRP1 can modify the OCA2 phenotype, resulting in red hair. </p>
|
|
</span>
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</div>
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 ALBINISM, OCULOCUTANEOUS, TYPE III</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TYRP1, ARG373TER
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|
|
<br />
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|
|
SNP: rs121912778,
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|
|
gnomAD: rs121912778,
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|
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|
|
|
ClinVar: RCV000019161, RCV001781283, RCV005042065
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a consanguineous Pakistani family with oculocutaneous albinism (OCA3; 203290), Forshew et al. (2005) identified homozygosity for a 1117C-T transition in exon 6 of the TYRP1 gene, resulting in an arg373-to-ter (R373X) substitution. The authors stated that this was the first TYRP1 mutation reported in non-Africans. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 ALBINISM, OCULOCUTANEOUS, TYPE III</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TYRP1, ARG356GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs281865424,
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|
|
|
|
|
gnomAD: rs281865424,
|
|
|
|
|
|
ClinVar: RCV000019162, RCV000755096, RCV001851935, RCV002476990, RCV003390690
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Caucasian German boy with oculocutaneous albinism (OCA3; 203290), Rooryck et al. (2006) identified compound heterozygosity for mutations in the TYRP1 gene: a 1066G-A transition in exon 5, resulting in an arg356-to-glu (R356E) substitution, and a de novo 1-bp deletion (106delT; 115501.0005) in exon 2, resulting in an immediate termination sequence at codon 36. The patient had yellow-gold hair with orange highlights, fair eyelashes, blue-green eyes with defects of the iris and nystagmus, several pigmented nevi, and pale yellow skin that did not tan but burned easily. The patient's unaffected mother and sister were heterozygous for the missense mutation, which was not found in 100 unrelated controls; the 1-bp deletion was not found in either parent or the sister. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 ALBINISM, OCULOCUTANEOUS, TYPE III</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TYRP1, 1-BP DEL, 106T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906561,
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|
|
|
|
|
|
|
ClinVar: RCV000019163
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion in the TYRP1 gene (106delT) that was found in compound heterozygous state in a patient with oculocutaneous albinism (OCA3; 203290) by Rooryck et al. (2006), see 115501.0004. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 ALBINISM, OCULOCUTANEOUS, TYPE III</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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<div>
|
|
<span class="mim-text-font">
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|
|
|
TYRP1, 4-BP DEL, 1057AACA
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|
|
<br />
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|
|
SNP: rs387906562,
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|
|
|
|
|
ClinVar: RCV000019164, RCV001380027, RCV002490389, RCV004752713
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy of Asian Indian origin with oculocutaneous albinism (OCA3; 203290), who had reddish hair color, brown irides, nystagmus, and lightly pigmented skin, Chiang et al. (2009) identified homozygosity for a 4-bp deletion (1057delAACA) in exon 5 of the TYRP1 gene. The unaffected parents were heterozygous for the deletion. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 MELANESIAN BLOND HAIR</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
TYRP1, ARG93CYS
|
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|
<br />
|
|
|
|
SNP: rs387907171,
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|
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gnomAD: rs387907171,
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|
|
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ClinVar: RCV000024318, RCV001048857
|
|
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|
|
</span>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In individuals from the Solomon Islands with blond hair (612271), Kenny et al. (2012) identified homozygosity for a C-to-T transition at chr9:12,694,273 (GRCh37) that corresponds to a predicted arg93-to-cys (R93C) mutation in exon 2 of the TYRP1 gene. The genotype was TT in blond-haired and CT or CC in dark-haired individuals. This mutation was present with an allele frequency of 0.26 on the Solomon Islands and was absent from 941 individuals from 52 worldwide populations. No evidence of European admixture was detected in this population. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Muller et al. (1988)
|
|
</span>
|
|
<div>
|
|
<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>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Abbott, C., Jackson, I. J., Carritt, B., Povey, S.
|
|
<strong>The human homolog of the mouse brown gene maps to the short arm of chromosome 9 and extends the known region of homology with mouse chromosome 4.</strong>
|
|
Genomics 11: 471-473, 1991.
|
|
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|
|
[PubMed: 1769662]
|
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|
|
[Full Text: https://doi.org/10.1016/0888-7543(91)90160-g]
|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Boissy, R. E., Zhao, H., Oetting, W. S., Austin, L. M., Wildenberg, S. C., Boissy, Y. L., Zhao, Y., Sturm, R. A., Hearing, V. J., King, R. A., Nordlund, J. J.
|
|
<strong>Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as 'OCA3.'</strong>
|
|
Am. J. Hum. Genet. 58: 1145-1156, 1996.
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|
|
[PubMed: 8651291]
|
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Sturm, R. A., O'Sullivan B. J., Box, N. F., Smith, A. G., Smit, S. E., Puttick, E. R. J., Parsons, P. G., Dunn, I. S.
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<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
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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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</body>
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</html>
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