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<title>
Entry
- #227240 - SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5
- OMIM
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<span class="h4">#227240</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/227240"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS227220"> <strong>Phenotypic Series</strong> </a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(SKIN/HAIR/EYE PIGMENTATION, VARIATION IN) OR (SLC45A2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.diseaseinfosearch.org/x/9309" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=227240[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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://omia.org/results?search_type=advanced&omia_id=000370,001344,001821,002617" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
</span>
</div>
<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">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
&nbsp;
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
227240
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR<br />
SKIN/HAIR/EYE PIGMENTATION 5, DARK/LIGHT EYES<br />
SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/95?start=-3&limit=10&highlight=95">
5p13.2
</a>
</span>
</td>
<td>
<span class="mim-font">
[Skin/hair/eye pigmentation 5, black/nonblack hair]
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227240"> 227240 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
SLC45A2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606202"> 606202 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/95?start=-3&limit=10&highlight=95">
5p13.2
</a>
</span>
</td>
<td>
<span class="mim-font">
[Skin/hair/eye pigmentation 5, dark/light eyes]
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227240"> 227240 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
SLC45A2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606202"> 606202 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/95?start=-3&limit=10&highlight=95">
5p13.2
</a>
</span>
</td>
<td>
<span class="mim-font">
[Skin/hair/eye pigmentation 5, dark/fair skin]
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227240"> 227240 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
SLC45A2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606202"> 606202 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/227240" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS227220" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/227240" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/227240" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<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>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> Eyes </strong>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Blue color recessive to green<br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> Inheritance </strong>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Autosomal recessive at GEY locus<br /> - Eye color probably polygenic<br />
</span>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Skin/hair/eye pigmentation, variation in
- <a href="/phenotypicSeries/PS227220">PS227220</a>
- 23 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/95?start=-3&limit=10&highlight=95"> 5p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227240"> [Skin/hair/eye pigmentation 5, dark/fair skin] </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227240"> 227240 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606202"> SLC45A2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606202"> 606202 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/95?start=-3&limit=10&highlight=95"> 5p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227240"> [Skin/hair/eye pigmentation 5, black/nonblack hair] </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227240"> 227240 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606202"> SLC45A2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606202"> 606202 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/95?start=-3&limit=10&highlight=95"> 5p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227240"> [Skin/hair/eye pigmentation 5, dark/light eyes] </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227240"> 227240 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606202"> SLC45A2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606202"> 606202 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/7?start=-3&limit=10&highlight=7"> 6p25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611724"> [Skin/hair/eye pigmentation, variation in, 8] </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611724"> 611724 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601900"> IRF4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601900"> 601900 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/48?start=-3&limit=10&highlight=48"> 9p23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612271"> [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)] </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612271"> 612271 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115501"> TYRP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115501"> 115501 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/693?start=-3&limit=10&highlight=693"> 11q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612267"> [Skin/hair/eye pigmentation 10, blond/brown hair] </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612267"> 612267 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612163"> TPCN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612163"> 612163 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/816?start=-3&limit=10&highlight=816"> 11q14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601800"> {Melanoma, cutaneous malignant, susceptibility to, 8} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601800"> 601800 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606933"> TYR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606933"> 606933 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/816?start=-3&limit=10&highlight=816"> 11q14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601800"> [Skin/hair/eye pigmentation 3, blue/green eyes] </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601800"> 601800 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606933"> TYR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606933"> 606933 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/816?start=-3&limit=10&highlight=816"> 11q14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601800"> [Skin/hair/eye pigmentation 3, light/dark/freckling skin] </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601800"> 601800 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606933"> TYR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606933"> 606933 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/666?start=-3&limit=10&highlight=666"> 12q21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611664"> [Skin/hair/eye pigmentation 7, blond/brown hair] </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611664"> 611664 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184745"> KITLG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/184745"> 184745 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/469?start=-3&limit=10&highlight=469"> 14q32.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/210750"> [Skin/hair/eye pigmentation 6, blue/green eyes] </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/210750"> 210750 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609840"> SLC24A4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609840"> 609840 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/469?start=-3&limit=10&highlight=469"> 14q32.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/210750"> [Skin/hair/eye pigmentation 6, blond/brown hair] </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/210750"> 210750 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609840"> SLC24A4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609840"> 609840 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/39?start=-3&limit=10&highlight=39"> 15q12-q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227220"> [Skin/hair/eye pigmentation 1, blond/brown hair] </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227220"> 227220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611409"> OCA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611409"> 611409 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/39?start=-3&limit=10&highlight=39"> 15q12-q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227220"> [Skin/hair/eye pigmentation 1, blue/nonblue eyes] </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227220"> 227220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611409"> OCA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611409"> 611409 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/45?start=-3&limit=10&highlight=45"> 15q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227220"> [Skin/hair/eye pigmentation 1, blond/brown hair] </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227220"> 227220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605837"> HERC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605837"> 605837 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/45?start=-3&limit=10&highlight=45"> 15q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227220"> [Skin/hair/eye pigmentation 1, blue/nonblue eyes] </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/227220"> 227220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605837"> HERC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605837"> 605837 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/188?start=-3&limit=10&highlight=188"> 15q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/113750"> Albinism, oculocutaneous, type VI </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/113750"> 113750 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609802"> SLC24A5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609802"> 609802 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/188?start=-3&limit=10&highlight=188"> 15q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/113750"> [Skin/hair/eye pigmentation 4, fair/dark skin] </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/113750"> 113750 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609802"> SLC24A5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609802"> 609802 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/757?start=-3&limit=10&highlight=757"> 16q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/266300"> {UV-induced skin damage} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/266300"> 266300 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/155555"> MC1R </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/155555"> 155555 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/757?start=-3&limit=10&highlight=757"> 16q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/266300"> [Skin/hair/eye pigmentation 2, blond hair/fair skin] </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/266300"> 266300 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/155555"> MC1R </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/155555"> 155555 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/757?start=-3&limit=10&highlight=757"> 16q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/266300"> [Skin/hair/eye pigmentation 2, red hair/fair skin] </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/266300"> 266300 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/155555"> MC1R </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/155555"> 155555 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/223?start=-3&limit=10&highlight=223"> 20q11.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611742"> [Skin/hair/eye pigmentation 9, dark/light hair] </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611742"> 611742 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600201"> ASIP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600201"> 600201 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/223?start=-3&limit=10&highlight=223"> 20q11.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611742"> [Skin/hair/eye pigmentation 9, brown/nonbrown eyes] </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611742"> 611742 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600201"> ASIP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600201"> 600201 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
</span>
</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that variation in the SLC45A2 gene (<a href="/entry/606202">606202</a>) influences skin, hair, and eye pigmentation.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of variation in skin, hair, and eye pigmentation, see <a href="/entry/227220">227220</a>.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#1" class="mim-tip-reference" title="Graf, J., Hodgson, R., van Daal, A. &lt;strong&gt;Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation.&lt;/strong&gt; Hum. Mutat. 25: 278-284, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15714523/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15714523&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20143&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15714523">Graf et al. (2005)</a> demonstrated a highly significant association of polymorphisms in the MATP gene (SLC45A2; <a href="/entry/606202">606202</a>) with normal variation in human pigmentation. Studying Caucasians, Asians, African Americans, and Australian Aborigines, they found associations particularly with 2 polymorphisms, G272K (<a href="/entry/606202#0007">606202.0007</a>) and F374L (<a href="/entry/606202#0008">606202.0008</a>). The 2 alleles, leu374 and lys272, were associated with dark hair, skin, and eye color in Caucasians. The odds ratios of the leu/leu genotype for black hair and olive skin were 25.63 and 28.65, respectively, and for the lys/lys genotype were 43.23 and 8.27, respectively. The odds ratio for eye color was lower at 3.48 for leu/leu and 6.57 for lys/lys genotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15714523" 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="Stokowski, R. P., Pant, P. V. K., Dadd, T., Fereday, A., Hinds, D. A., Jarman, C., Filsell, W., Ginger, R. S., Green, M. R., van der Ouderaa, F. J., Cox, D. R. &lt;strong&gt;A genomewide association study of skin pigmentation in a South Asian population.&lt;/strong&gt; Am. J. Hum. Genet. 81: 1119-1132, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17999355/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17999355&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17999355[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/522235&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17999355">Stokowski et al. (2007)</a> demonstrated an association between the SNP {dbSNP 16891982} (F374L; <a href="/entry/606202#0008">606202.0008</a>) and skin pigmentation variation in individuals of South Asian descent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17999355" 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="Stacey, S. N., Sulem, P., Masson, G., Gudjonsson, S. A., Thorleifsson, G., Jakobsdottir, M., Sigurdsson, A., Gudjartsson, D. F., Sigurgeirsson, B., Benediktsdottir, K. R., Thorisdottir, K., Ragnarsson, R., and 52 others. &lt;strong&gt;New common variants affecting susceptibility to basal cell carcinoma.&lt;/strong&gt; Nature Genet. 41: 909-914, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19578363/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19578363&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.412&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19578363">Stacey et al. (2009)</a> confirmed association of the SNP {dbSNP 16891982} (L374F) with fair pigmentation using samples from Iceland, eastern Europe, Spain, and the United States, observing strong association with all traits except red hair and freckles. <a href="#3" class="mim-tip-reference" title="Stacey, S. N., Sulem, P., Masson, G., Gudjonsson, S. A., Thorleifsson, G., Jakobsdottir, M., Sigurdsson, A., Gudjartsson, D. F., Sigurgeirsson, B., Benediktsdottir, K. R., Thorisdottir, K., Ragnarsson, R., and 52 others. &lt;strong&gt;New common variants affecting susceptibility to basal cell carcinoma.&lt;/strong&gt; Nature Genet. 41: 909-914, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19578363/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19578363&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.412&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19578363">Stacey et al. (2009)</a> found that this variant was associated with risk of both basal cell carcinoma (BCC; see <a href="/entry/605462">605462</a>) and squamous cell carcinoma (odds ratio = 1.97, P = 1.6 x 10(-12) for BCC) in 3,326 basal cell carcinoma cases and 5,493 controls of European ancestry. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19578363" 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>
</span>
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<br />
</div>
</div>
<div>
<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
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<span class="mim-text-font">
<p><a href="#2" class="mim-tip-reference" title="Graf, J., Voisey, J., Hughes, I., van Daal, A. &lt;strong&gt;Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation.&lt;/strong&gt; Hum. Mutat. 28: 710-717, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17358008/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17358008&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20504&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17358008">Graf et al. (2007)</a> examined the association between normal skin color variation in several populations and 3 different promoter polymorphisms in the MATP gene: -1721C-G (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13289;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs13289</a>), -1169G-A (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs6867641;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs6867641</a>), and a 3-bp duplication, -1174dupAAT. In Caucasian samples, -1721C-G and -1174dupAAT were in complete linkage disequilibrium. In Caucasians only, the -1721G, -1169A, and +dup alleles were significantly associated with olive skin color. Functional analysis in melanoma skin cells showed that this promoter haplotype decreased MATP transcription, suggesting a functional significance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17358008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Graf2005" class="mim-anchor"></a>
<div class="">
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Graf, J., Hodgson, R., van Daal, A.
<strong>Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation.</strong>
Hum. Mutat. 25: 278-284, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15714523/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15714523</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15714523" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.20143" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Graf2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Graf, J., Voisey, J., Hughes, I., van Daal, A.
<strong>Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation.</strong>
Hum. Mutat. 28: 710-717, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17358008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17358008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17358008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.20504" target="_blank">Full Text</a>]
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<a id="Stacey2009" class="mim-anchor"></a>
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Stacey, S. N., Sulem, P., Masson, G., Gudjonsson, S. A., Thorleifsson, G., Jakobsdottir, M., Sigurdsson, A., Gudjartsson, D. F., Sigurgeirsson, B., Benediktsdottir, K. R., Thorisdottir, K., Ragnarsson, R., and 52 others.
<strong>New common variants affecting susceptibility to basal cell carcinoma.</strong>
Nature Genet. 41: 909-914, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19578363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19578363</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19578363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng.412" target="_blank">Full Text</a>]
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<a id="Stokowski2007" class="mim-anchor"></a>
<div class="">
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Stokowski, R. P., Pant, P. V. K., Dadd, T., Fereday, A., Hinds, D. A., Jarman, C., Filsell, W., Ginger, R. S., Green, M. R., van der Ouderaa, F. J., Cox, D. R.
<strong>A genomewide association study of skin pigmentation in a South Asian population.</strong>
Am. J. Hum. Genet. 81: 1119-1132, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17999355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17999355</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17999355[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17999355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/522235" target="_blank">Full Text</a>]
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Ada Hamosh : 10/02/2009
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Anne M. Stumpf - updated : 1/16/2008<br>Victor A. McKusick - updated : 1/31/2007<br>Victor A. McKusick - updated : 5/10/1997
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Victor A. McKusick : 6/3/1986
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alopez : 10/02/2009
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alopez : 10/2/2009<br>alopez : 1/17/2008<br>alopez : 1/16/2008<br>alopez : 2/2/2007<br>terry : 1/31/2007<br>alopez : 3/18/2004<br>dkim : 7/21/1998<br>mark : 5/15/1997<br>terry : 5/10/1997<br>mark : 9/27/1995<br>warfield : 4/15/1994<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>carol : 12/20/1989
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<h3>
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<strong>#</strong> 227240
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<h3>
<span class="mim-font">
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5
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<span class="mim-font">
<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR<br />
SKIN/HAIR/EYE PIGMENTATION 5, DARK/LIGHT EYES<br />
SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN
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<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
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<td>
<span class="mim-font">
5p13.2
</span>
</td>
<td>
<span class="mim-font">
[Skin/hair/eye pigmentation 5, black/nonblack hair]
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<td>
<span class="mim-font">
227240
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
SLC45A2
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</td>
<td>
<span class="mim-font">
606202
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</td>
</tr>
<tr>
<td>
<span class="mim-font">
5p13.2
</span>
</td>
<td>
<span class="mim-font">
[Skin/hair/eye pigmentation 5, dark/light eyes]
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</td>
<td>
<span class="mim-font">
227240
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
SLC45A2
</span>
</td>
<td>
<span class="mim-font">
606202
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
5p13.2
</span>
</td>
<td>
<span class="mim-font">
[Skin/hair/eye pigmentation 5, dark/fair skin]
</span>
</td>
<td>
<span class="mim-font">
227240
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
SLC45A2
</span>
</td>
<td>
<span class="mim-font">
606202
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
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<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that variation in the SLC45A2 gene (606202) influences skin, hair, and eye pigmentation.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of variation in skin, hair, and eye pigmentation, see 227220.</p>
</span>
<div>
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<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Graf et al. (2005) demonstrated a highly significant association of polymorphisms in the MATP gene (SLC45A2; 606202) with normal variation in human pigmentation. Studying Caucasians, Asians, African Americans, and Australian Aborigines, they found associations particularly with 2 polymorphisms, G272K (606202.0007) and F374L (606202.0008). The 2 alleles, leu374 and lys272, were associated with dark hair, skin, and eye color in Caucasians. The odds ratios of the leu/leu genotype for black hair and olive skin were 25.63 and 28.65, respectively, and for the lys/lys genotype were 43.23 and 8.27, respectively. The odds ratio for eye color was lower at 3.48 for leu/leu and 6.57 for lys/lys genotypes. </p><p>Stokowski et al. (2007) demonstrated an association between the SNP {dbSNP 16891982} (F374L; 606202.0008) and skin pigmentation variation in individuals of South Asian descent. </p><p>Stacey et al. (2009) confirmed association of the SNP {dbSNP 16891982} (L374F) with fair pigmentation using samples from Iceland, eastern Europe, Spain, and the United States, observing strong association with all traits except red hair and freckles. Stacey et al. (2009) found that this variant was associated with risk of both basal cell carcinoma (BCC; see 605462) and squamous cell carcinoma (odds ratio = 1.97, P = 1.6 x 10(-12) for BCC) in 3,326 basal cell carcinoma cases and 5,493 controls of European ancestry. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Graf et al. (2007) examined the association between normal skin color variation in several populations and 3 different promoter polymorphisms in the MATP gene: -1721C-G (rs13289), -1169G-A (rs6867641), and a 3-bp duplication, -1174dupAAT. In Caucasian samples, -1721C-G and -1174dupAAT were in complete linkage disequilibrium. In Caucasians only, the -1721G, -1169A, and +dup alleles were significantly associated with olive skin color. Functional analysis in melanoma skin cells showed that this promoter haplotype decreased MATP transcription, suggesting a functional significance. </p>
</span>
<div>
<br />
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Graf, J., Hodgson, R., van Daal, A.
<strong>Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation.</strong>
Hum. Mutat. 25: 278-284, 2005.
[PubMed: 15714523]
[Full Text: https://doi.org/10.1002/humu.20143]
</p>
</li>
<li>
<p class="mim-text-font">
Graf, J., Voisey, J., Hughes, I., van Daal, A.
<strong>Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation.</strong>
Hum. Mutat. 28: 710-717, 2007.
[PubMed: 17358008]
[Full Text: https://doi.org/10.1002/humu.20504]
</p>
</li>
<li>
<p class="mim-text-font">
Stacey, S. N., Sulem, P., Masson, G., Gudjonsson, S. A., Thorleifsson, G., Jakobsdottir, M., Sigurdsson, A., Gudjartsson, D. F., Sigurgeirsson, B., Benediktsdottir, K. R., Thorisdottir, K., Ragnarsson, R., and 52 others.
<strong>New common variants affecting susceptibility to basal cell carcinoma.</strong>
Nature Genet. 41: 909-914, 2009.
[PubMed: 19578363]
[Full Text: https://doi.org/10.1038/ng.412]
</p>
</li>
<li>
<p class="mim-text-font">
Stokowski, R. P., Pant, P. V. K., Dadd, T., Fereday, A., Hinds, D. A., Jarman, C., Filsell, W., Ginger, R. S., Green, M. R., van der Ouderaa, F. J., Cox, D. R.
<strong>A genomewide association study of skin pigmentation in a South Asian population.</strong>
Am. J. Hum. Genet. 81: 1119-1132, 2007.
[PubMed: 17999355]
[Full Text: https://doi.org/10.1086/522235]
</p>
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Contributors:
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<span class="mim-text-font">
Ada Hamosh : 10/02/2009<br>Anne M. Stumpf - updated : 1/16/2008<br>Victor A. McKusick - updated : 1/31/2007<br>Victor A. McKusick - updated : 5/10/1997
</span>
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Victor A. McKusick : 6/3/1986
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alopez : 10/02/2009<br>alopez : 10/2/2009<br>alopez : 1/17/2008<br>alopez : 1/16/2008<br>alopez : 2/2/2007<br>terry : 1/31/2007<br>alopez : 3/18/2004<br>dkim : 7/21/1998<br>mark : 5/15/1997<br>terry : 5/10/1997<br>mark : 9/27/1995<br>warfield : 4/15/1994<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>carol : 12/20/1989
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