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<title>
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Entry
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- *300135 - ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 7; ABCB7
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- OMIM
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</li>
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</ul>
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</div>
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</nav>
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</div>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="row">
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<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
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<div class="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<li role="separator" class="divider"></li>
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<a href="/history"> Search History </a>
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</ul>
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</div>
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</div>
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<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
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<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
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<span class="small">
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</form>
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<p />
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</div>
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<!-- <div id="mimSearch"> -->
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<div id="mimAlertBanner">
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*300135</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
|
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<a href="/allelicVariants/300135">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
|
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
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<div style="display: table-row">
|
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
|
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</div>
|
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</a>
|
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
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</a>
|
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</span>
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</span>
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</div>
|
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000131269;t=ENST00000373394" 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=22" 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=300135" 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=ENSG00000131269;t=ENST00000373394" 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_001271696,NM_001271697,NM_001271698,NM_001271699,NM_004299" 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_001271696" 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=300135" 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=02137&isoform_id=02137_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/ABCB7" 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/3329370,4927190,5702098,8928549,13374271,13623447,31873808,32880179,42490749,119619038,119619039,119619040,119619041,119619042,119619043,193785544,194378158,411147363,411147365,411147367,411147369,957948796,957948799,957948802,957948808" 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/O75027" 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=22" 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=ENSG00000131269;t=ENST00000373394" 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=ABCB7" 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=ABCB7" 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+22" 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/ABCB7" 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:22" 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/22" 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=chrX&hgg_gene=ENST00000373394.8&hgg_start=75051048&hgg_end=75156283&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:48" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/abcb7" 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=300135[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=300135[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000131269" 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=ABCB7" 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=ABCB7" 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=ABCB7" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/ABCB7" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ABCB7&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/PA24389" 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:48" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0035244.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:109533" 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/ABCB7#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:109533" 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/22/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=22" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00022281;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050517-10" 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:22" 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=ABCB7&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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300135
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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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ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 7; ABCB7
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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>
|
|
<span class="mim-font">
|
|
ATP-BINDING CASSETTE 7; ABC7<br />
|
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ATP-BINDING CASSETTE TRANSPORTER 7<br />
|
|
ABC TRANSPORTER 7
|
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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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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ABCB7" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ABCB7</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/X/439?start=-3&limit=10&highlight=439">Xq13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:75051048-75156283&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'})">X:75,051,048-75,156,283</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
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<div>
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<table class="table table-bordered table-condensed table-hover 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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Xq13.3
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Anemia, sideroblastic, with ataxia
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<a href="/entry/301310"> 301310 </a>
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<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/300135" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/300135" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-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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<p>The ABCB7 gene encodes a member of the large, highly conserved ATP-binding cassette (ABC) transporter family, which transport a variety of substrates across cell and organelle membranes. ABCB7 localizes to the inner mitochondrial membrane and is involved in iron homeostasis (summary by <a href="#1" class="mim-tip-reference" title="Allikmets, R., Raskind, W. H., Hutchinson, A., Schueck, N. D., Dean, M., Koeller, D. M. <strong>Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).</strong> Hum. Molec. Genet. 8: 743-749, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10196363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10196363</a>] [<a href="https://doi.org/10.1093/hmg/8.5.743" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10196363">Allikmets et al., 1999</a>; <a href="#3" class="mim-tip-reference" title="D'Hooghe, M., Selleslag, D., Mortier, G., Van Coster, R., Vermeersch, P., Billiet, J., Bekri, S. <strong>X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.</strong> Europ. J. Paediat. Neurol. 16: 730-735, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22398176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22398176</a>] [<a href="https://doi.org/10.1016/j.ejpn.2012.02.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22398176">D'Hooghe et al., 2012</a>). For background information on ABC transporters, see <a href="/entry/300135">300135</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10196363+22398176" 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>Cloning and Expression</strong>
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<p><a href="#8" class="mim-tip-reference" title="Savary, S., Allikmets, R., Denizot, F., Luciani, M.-F., Mattei, M.-G., Dean, M., Chimini, G. <strong>Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human.</strong> Genomics 41: 275-278, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9143506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9143506</a>] [<a href="https://doi.org/10.1006/geno.1997.4658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9143506">Savary et al. (1997)</a> isolated a 2,684-bp mouse cDNA of a novel ABC transporter, Abc7, from a macrophage cDNA library. Beginning with the first ATG at 196, the Abc7 cDNA is predicted to encode a 629-amino acid protein with 6 transmembrane segments followed by a canonical ATP-binding cassette, features typical of a half-transporter. A search of the human EST databases identified a 1,109-bp clone from a fetal liver spleen cDNA library that showed 92% nucleotide sequence identity to mouse Abc7. The putative protein product encoded by this clone is 94% identical to the C-terminal 340 amino acids of mouse Abc7. These high sequence identities led <a href="#8" class="mim-tip-reference" title="Savary, S., Allikmets, R., Denizot, F., Luciani, M.-F., Mattei, M.-G., Dean, M., Chimini, G. <strong>Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human.</strong> Genomics 41: 275-278, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9143506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9143506</a>] [<a href="https://doi.org/10.1006/geno.1997.4658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9143506">Savary et al. (1997)</a> to conclude that the EST clone is the human ortholog of Abc7. Northern blot analysis detected an approximately 3-kb ABC7 transcript in human heart, skeletal muscle, pancreas, lung, liver, placenta, and several cell lines, but not in brain. Northern blot analysis performed on mouse embryos showed that Abc7 was expressed through all the developmental stages examined, beginning at embryonic day 6.5. A search of sequence databases revealed that ABC7 has the highest homology with 2 yeast ABC transporters. Since one of these, S. Pombe Htm1, is required for heavy-metal tolerance in yeast, <a href="#8" class="mim-tip-reference" title="Savary, S., Allikmets, R., Denizot, F., Luciani, M.-F., Mattei, M.-G., Dean, M., Chimini, G. <strong>Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human.</strong> Genomics 41: 275-278, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9143506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9143506</a>] [<a href="https://doi.org/10.1006/geno.1997.4658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9143506">Savary et al. (1997)</a> speculated that ABC7 may be involved in metal homeostasis. Furthermore, <a href="#8" class="mim-tip-reference" title="Savary, S., Allikmets, R., Denizot, F., Luciani, M.-F., Mattei, M.-G., Dean, M., Chimini, G. <strong>Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human.</strong> Genomics 41: 275-278, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9143506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9143506</a>] [<a href="https://doi.org/10.1006/geno.1997.4658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9143506">Savary et al. (1997)</a> noted that diseases due to altered <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9143506" 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="#9" class="mim-tip-reference" title="Shimada, Y., Okuno, S., Kawai, A., Shinomiya, H., Saito, A., Suzuki, M., Omori, Y., Nishino, N., Kanemoto, N., Fujiwara, T., Horie, M., Takahashi, E. <strong>Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia.</strong> J. Hum. Genet. 43: 115-122, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9621516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9621516</a>] [<a href="https://doi.org/10.1007/s100380050051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9621516">Shimada et al. (1998)</a> identified a human EST showing high sequence similarity to the mouse Abc7 gene and the yeast ATM1 gene, which encodes an ABC half-transporter located in the mitochondrial inner membrane. To obtain the complete human ABC7 cDNA sequence, they isolated additional cDNAs from a human fetal brain cDNA library. The predicted 752-amino acid ABC7 protein contains 4 transmembrane domains and an N-terminal mitochondrial targeting sequence. Human ABC7 has 92% and 49% amino acid sequence identity with mouse Abc7 and yeast ATM1, respectively. Northern blot analysis of human tissues detected a single 2.6-kb ABC7 transcript that was strongly expressed in skeletal muscle and heart. <a href="#9" class="mim-tip-reference" title="Shimada, Y., Okuno, S., Kawai, A., Shinomiya, H., Saito, A., Suzuki, M., Omori, Y., Nishino, N., Kanemoto, N., Fujiwara, T., Horie, M., Takahashi, E. <strong>Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia.</strong> J. Hum. Genet. 43: 115-122, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9621516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9621516</a>] [<a href="https://doi.org/10.1007/s100380050051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9621516">Shimada et al. (1998)</a> suggested that ABC7 is a half-transporter involved in the transport of heme from the mitochondria to the cytosol. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9621516" 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="#1" class="mim-tip-reference" title="Allikmets, R., Raskind, W. H., Hutchinson, A., Schueck, N. D., Dean, M., Koeller, D. M. <strong>Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).</strong> Hum. Molec. Genet. 8: 743-749, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10196363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10196363</a>] [<a href="https://doi.org/10.1093/hmg/8.5.743" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10196363">Allikmets et al. (1999)</a> cloned the full-length ABC7 cDNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10196363" 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="#2" class="mim-tip-reference" title="Bekri, S., Kispal, G., Lange, H., Fitzsimons, E., Tolmie, J., Lill, R., Bishop, D. F. <strong>Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.</strong> Blood 96: 3256-3264, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11050011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11050011</a>]" pmid="11050011">Bekri et al. (2000)</a> determined that the ABCB7 gene contains 16 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11050011" 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>By in situ hybridization, <a href="#8" class="mim-tip-reference" title="Savary, S., Allikmets, R., Denizot, F., Luciani, M.-F., Mattei, M.-G., Dean, M., Chimini, G. <strong>Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human.</strong> Genomics 41: 275-278, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9143506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9143506</a>] [<a href="https://doi.org/10.1006/geno.1997.4658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9143506">Savary et al. (1997)</a> mapped the human and mouse ABC7 genes to chromosomes Xq12-q13 and XC-XD, respectively, regions that show homology of synteny. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9143506" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By fluorescence in situ hybridization, <a href="#9" class="mim-tip-reference" title="Shimada, Y., Okuno, S., Kawai, A., Shinomiya, H., Saito, A., Suzuki, M., Omori, Y., Nishino, N., Kanemoto, N., Fujiwara, T., Horie, M., Takahashi, E. <strong>Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia.</strong> J. Hum. Genet. 43: 115-122, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9621516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9621516</a>] [<a href="https://doi.org/10.1007/s100380050051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9621516">Shimada et al. (1998)</a> refined the localization of the human ABC7 gene to chromosome Xq13.1-q13.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9621516" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected males from a family with X-linked spinocerebellar ataxia-6 with sideroblastic anemia (SCAX6; <a href="/entry/301310">301310</a>), originally reported by <a href="#6" class="mim-tip-reference" title="Pagon, R. A., Bird, T. D., Detter, J. C., Pierce, I. <strong>Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder.</strong> J. Med. Genet. 22: 267-273, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4045952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4045952</a>] [<a href="https://doi.org/10.1136/jmg.22.4.267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4045952">Pagon et al. (1985)</a>, <a href="#1" class="mim-tip-reference" title="Allikmets, R., Raskind, W. H., Hutchinson, A., Schueck, N. D., Dean, M., Koeller, D. M. <strong>Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).</strong> Hum. Molec. Genet. 8: 743-749, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10196363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10196363</a>] [<a href="https://doi.org/10.1093/hmg/8.5.743" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10196363">Allikmets et al. (1999)</a> identified a hemizygous missense mutation in the ABCB7 gene (I400M; <a href="#0001">300135.0001</a>). The mutation, which occurred in a predicted transmembrane segment of the protein, was found to segregate with the disease in the family. Introduction of the corresponding mutation into the orthologous Saccharomyces cerevisiae gene resulted in a partial loss of function of the yeast ATM1 protein. In addition, the human wildtype ABCB7 protein was able to complement ATM1 deletion in yeast. The data indicated that ABCB7 is the causal gene of SCAX6 and that SCAX6 is a mitochondrial disease caused by mutation in the nuclear genome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10196363+4045952" 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="#2" class="mim-tip-reference" title="Bekri, S., Kispal, G., Lange, H., Fitzsimons, E., Tolmie, J., Lill, R., Bishop, D. F. <strong>Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.</strong> Blood 96: 3256-3264, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11050011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11050011</a>]" pmid="11050011">Bekri et al. (2000)</a> identified a second missense mutation in the ABCB7 gene (E433K; <a href="#0002">300135.0002</a>) as the cause of SCAX6 in a family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11050011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 brothers with SCAX6, originally reported by <a href="#4" class="mim-tip-reference" title="Hellier, K. D., Hatchwell, E., Duncombe, A. S., Kew, J., Hammans, S. R. <strong>X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?</strong> J. Neurol. Neurosurg. Psychiat. 70: 65-69, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11118249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11118249</a>] [<a href="https://doi.org/10.1136/jnnp.70.1.65" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11118249">Hellier et al. (2001)</a>, <a href="#5" class="mim-tip-reference" title="Maguire, A., Hellier, K., Hammans, S., May, A. <strong>X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.</strong> Brit. J. Haemat. 115: 910-917, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11843825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11843825</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2001.03015.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11843825">Maguire et al. (2001)</a> identified a hemizygous missense mutation in the ABCB7 gene (V411L; <a href="#0003">300135.0003</a>). The mother was heterozygous for the mutation, and a maternal uncle with ataxia was hemizygous for the mutation. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11843825+11118249" 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 5-year-old boy with SCAX6, <a href="#3" class="mim-tip-reference" title="D'Hooghe, M., Selleslag, D., Mortier, G., Van Coster, R., Vermeersch, P., Billiet, J., Bekri, S. <strong>X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.</strong> Europ. J. Paediat. Neurol. 16: 730-735, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22398176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22398176</a>] [<a href="https://doi.org/10.1016/j.ejpn.2012.02.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22398176">D'Hooghe et al. (2012)</a> identified a hemizygous missense mutation in the ABCB7 gene (E209D; <a href="#0004">300135.0004</a>). Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22398176" 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 5-year-old Chinese boy with SCAX6, <a href="#10" class="mim-tip-reference" title="Xiong, S., Jia, Y., Li, S., Huang, P., Xiong, J., Mao, D., He, Q., Liu, L. <strong>The first case report of X-linked sideroblastic anemia with ataxia of Chinese origin and literature review.</strong> Front. Pediat. 9: 692459, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34354969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34354969</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34354969[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/10.3389/fped.2021.692459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34354969">Xiong et al. (2021)</a> identified a hemizygous missense mutation in the ABCB7 gene (D675G; <a href="#0005">300135.0005</a>). The mutation, which was found by whole-exome sequencing, was inherited from the mother, who had only subtle anemia. The variant was not present in the gnomAD database. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34354969" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Pondarre, C., Antiochos, B. B., Campagna, D. R., Clarke, S. L., Greer, E. L., Deck, K. M., McDonald, A., Han, A.-P., Medlock, A., Kutok, J. L., Anderson, S. A., Eisenstein, R. S., Fleming, M. D. <strong>The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis.</strong> Hum. Molec. Genet. 15: 953-964, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16467350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16467350</a>] [<a href="https://doi.org/10.1093/hmg/ddl012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16467350">Pondarre et al. (2006)</a> found that mouse embryonic stem cells and male mouse embryos expressing a conditionally deleted Abcb7 allele were not viable. Maternally-inherited Abcb7 deletion was lethal to female embryos. By breeding a series of conditionally deleted transgenic lines, <a href="#7" class="mim-tip-reference" title="Pondarre, C., Antiochos, B. B., Campagna, D. R., Clarke, S. L., Greer, E. L., Deck, K. M., McDonald, A., Han, A.-P., Medlock, A., Kutok, J. L., Anderson, S. A., Eisenstein, R. S., Fleming, M. D. <strong>The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis.</strong> Hum. Molec. Genet. 15: 953-964, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16467350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16467350</a>] [<a href="https://doi.org/10.1093/hmg/ddl012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16467350">Pondarre et al. (2006)</a> demonstrated that lethality was due to a defect in extraembryonic visceral endoderm, which, like all other extraembryonic tissue, preferentially maintains the female X chromosome as the active allele. X-inactivation assays and tissue-specific deletion showed that Abcb7 was essential in all tissues except hepatocytes and endothelial cells. In liver, loss of Abcb7 resulted in mild mitochondrial injury, impaired cytosolic Fe-S cluster assembly, and altered iron sensing by Irp1 (ACO1; <a href="/entry/100880">100880</a>), which contributed to dysregulation of hepatocyte iron metabolism and increased total liver iron. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16467350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected males from a family with X-linked spinocerebellar ataxia-6 with sideroblastic anemia (SCAX6; <a href="/entry/301310">301310</a>), originally reported by <a href="#6" class="mim-tip-reference" title="Pagon, R. A., Bird, T. D., Detter, J. C., Pierce, I. <strong>Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder.</strong> J. Med. Genet. 22: 267-273, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4045952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4045952</a>] [<a href="https://doi.org/10.1136/jmg.22.4.267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4045952">Pagon et al. (1985)</a>, <a href="#1" class="mim-tip-reference" title="Allikmets, R., Raskind, W. H., Hutchinson, A., Schueck, N. D., Dean, M., Koeller, D. M. <strong>Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).</strong> Hum. Molec. Genet. 8: 743-749, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10196363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10196363</a>] [<a href="https://doi.org/10.1093/hmg/8.5.743" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10196363">Allikmets et al. (1999)</a> identified a hemizygous ile400-to-met (I400M) mutation in the ABCB7 gene. The mutation, which occurred in a predicted transmembrane segment of the protein, was found to segregate with the disease in the family. The mutation was not detected in at least 600 chromosomes of general population controls. Introduction of the corresponding mutation into the orthologous Saccharomyces cerevisiae gene resulted in a partial loss of function of the yeast ATM1 protein. In addition, the human wildtype ABCB7 protein was able to complement ATM1 deletion in yeast. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10196363+4045952" 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="#2" class="mim-tip-reference" title="Bekri, S., Kispal, G., Lange, H., Fitzsimons, E., Tolmie, J., Lill, R., Bishop, D. F. <strong>Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.</strong> Blood 96: 3256-3264, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11050011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11050011</a>]" pmid="11050011">Bekri et al. (2000)</a> described a family in which affected males with X-linked spinocerebellar ataxia-6 with sideroblastic anemia (SCAX6; <a href="/entry/301310">301310</a>) had a hemizygous missense mutation in exon 10 of the ABC7 gene: a c.1305G-A transition, resulting in a glu433-to-lys (E433K) substitution located C-terminal to the putative sixth transmembrane domain of ABCB7. In the older brother, congenital ataxia had been diagnosed at the age of 4. The ataxia was nonprogressive, and computed tomography of the brain at age 18 showed striking, selective cerebellar hypoplasia. The mother's blood film showed dimorphism, consistent with an X-linked defect. The anemia was refractory to treatment with pyridoxine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11050011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 SPINOCEREBELLAR ATAXIA, X-LINKED 6, WITH SIDEROBLASTIC ANEMIA</strong>
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ABCB7, VAL411LEU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80356713 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80356713;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=rs80356713" 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=rs80356713" 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=RCV000012332" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012332" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012332</a>
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<p>In 2 brothers with X-linked spinocerebellar ataxia-6 with sideroblastic anemia (SCAX6; <a href="/entry/301310">301310</a>) originally reported by <a href="#4" class="mim-tip-reference" title="Hellier, K. D., Hatchwell, E., Duncombe, A. S., Kew, J., Hammans, S. R. <strong>X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?</strong> J. Neurol. Neurosurg. Psychiat. 70: 65-69, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11118249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11118249</a>] [<a href="https://doi.org/10.1136/jnnp.70.1.65" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11118249">Hellier et al. (2001)</a>, <a href="#5" class="mim-tip-reference" title="Maguire, A., Hellier, K., Hammans, S., May, A. <strong>X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.</strong> Brit. J. Haemat. 115: 910-917, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11843825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11843825</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2001.03015.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11843825">Maguire et al. (2001)</a> identified a hemizygous c.1299G-C transversion in the ABCB7 gene, resulting in a val411-to-leu (V411L) substitution at the beginning of the last of 6 putative transmembrane regions of the protein. The mother was heterozygous for the mutation, and a maternal uncle with ataxia was hemizygous for the mutation. The patients had ataxia and hypochromic red cells with increased erythrocyte protoporphyrin despite normal iron stores. The mother was unaffected by ataxia and had normal iron stores, but showed evidence of some red cell hypochromia with heavy basophilic stippling that stained positive for iron. Bone marrow biopsy confirmed the presence of ring sideroblasts in one of the brothers. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11843825+11118249" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0004" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0004 SPINOCEREBELLAR ATAXIA, X-LINKED 6, WITH SIDEROBLASTIC ANEMIA</strong>
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</h4>
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ABCB7, GLU209ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs515726147 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs515726147;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=rs515726147" 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=rs515726147" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000114380" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000114380" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000114380</a>
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</span>
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<span class="mim-text-font">
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<p>In a 5-year-old boy with X-linked spinocerebellar ataxia-6 with sideroblastic anemia (SCAX6; <a href="/entry/301310">301310</a>), <a href="#3" class="mim-tip-reference" title="D'Hooghe, M., Selleslag, D., Mortier, G., Van Coster, R., Vermeersch, P., Billiet, J., Bekri, S. <strong>X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.</strong> Europ. J. Paediat. Neurol. 16: 730-735, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22398176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22398176</a>] [<a href="https://doi.org/10.1016/j.ejpn.2012.02.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22398176">D'Hooghe et al. (2012)</a> identified a hemizygous c.627A-T transition in the ABCB7 gene, predicted to result in a glu209-to-asp (E209D) substitution at a conserved residue adjacent to the second transmembrane domain at the mitochondrial side, which may affect protein folding. The mutation was present in the heterozygous state in the mother, who had no symptoms, but showed mild hematologic abnormalities on peripheral blood smear. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22398176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 SPINOCEREBELLAR ATAXIA, X-LINKED 6, WITH SIDEROBLASTIC ANEMIA</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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<div style="float: left;">
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ABCB7, ASP675GLY
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</div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV004584290" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV004584290" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV004584290</a>
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</span>
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<div>
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<span class="mim-text-font">
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<p>In a 5-year-old Chinese boy with X-linked spinocerebellar ataxia-6 with sideroblastic anemia (SCAX6; <a href="/entry/301310">301310</a>), <a href="#10" class="mim-tip-reference" title="Xiong, S., Jia, Y., Li, S., Huang, P., Xiong, J., Mao, D., He, Q., Liu, L. <strong>The first case report of X-linked sideroblastic anemia with ataxia of Chinese origin and literature review.</strong> Front. Pediat. 9: 692459, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34354969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34354969</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34354969[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/10.3389/fped.2021.692459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34354969">Xiong et al. (2021)</a> identified a hemizygous c.2024A-G transition (c.2024A-G, NM_004299) in the ABCB7 gene, resulting in an asp675-to-gly (D675G) substitution. The mutation, which was found by whole-exome sequencing, was inherited from the mother, who had only subtle anemia. The variant was not present in the gnomAD database. Functional studies of the variant and studies of patient cells were not performed. In addition to ataxia and mild anemia, the patient had global developmental delay and early-onset seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34354969" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<a id="1" class="mim-anchor"></a>
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<a id="Allikmets1999" class="mim-anchor"></a>
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Allikmets, R., Raskind, W. H., Hutchinson, A., Schueck, N. D., Dean, M., Koeller, D. M.
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<strong>Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).</strong>
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Hum. Molec. Genet. 8: 743-749, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10196363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10196363</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10196363" 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/hmg/8.5.743" target="_blank">Full Text</a>]
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<a id="Bekri2000" class="mim-anchor"></a>
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Bekri, S., Kispal, G., Lange, H., Fitzsimons, E., Tolmie, J., Lill, R., Bishop, D. F.
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<strong>Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.</strong>
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Blood 96: 3256-3264, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11050011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11050011</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11050011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="D'Hooghe2012" class="mim-anchor"></a>
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<div class="">
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D'Hooghe, M., Selleslag, D., Mortier, G., Van Coster, R., Vermeersch, P., Billiet, J., Bekri, S.
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<strong>X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.</strong>
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Europ. J. Paediat. Neurol. 16: 730-735, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22398176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22398176</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22398176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ejpn.2012.02.003" target="_blank">Full Text</a>]
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<a id="Hellier2001" class="mim-anchor"></a>
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<p class="mim-text-font">
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Hellier, K. D., Hatchwell, E., Duncombe, A. S., Kew, J., Hammans, S. R.
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<strong>X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?</strong>
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J. Neurol. Neurosurg. Psychiat. 70: 65-69, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11118249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11118249</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11118249" 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/10.1136/jnnp.70.1.65" target="_blank">Full Text</a>]
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<a id="Maguire2001" class="mim-anchor"></a>
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Maguire, A., Hellier, K., Hammans, S., May, A.
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<strong>X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.</strong>
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Brit. J. Haemat. 115: 910-917, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11843825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11843825</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11843825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1365-2141.2001.03015.x" target="_blank">Full Text</a>]
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<a id="Pagon1985" class="mim-anchor"></a>
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Pagon, R. A., Bird, T. D., Detter, J. C., Pierce, I.
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<strong>Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder.</strong>
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J. Med. Genet. 22: 267-273, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4045952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4045952</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4045952" 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/10.1136/jmg.22.4.267" target="_blank">Full Text</a>]
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<a id="Pondarre2006" class="mim-anchor"></a>
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Pondarre, C., Antiochos, B. B., Campagna, D. R., Clarke, S. L., Greer, E. L., Deck, K. M., McDonald, A., Han, A.-P., Medlock, A., Kutok, J. L., Anderson, S. A., Eisenstein, R. S., Fleming, M. D.
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<strong>The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis.</strong>
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Hum. Molec. Genet. 15: 953-964, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16467350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16467350</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16467350" 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/hmg/ddl012" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Savary1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Savary, S., Allikmets, R., Denizot, F., Luciani, M.-F., Mattei, M.-G., Dean, M., Chimini, G.
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<strong>Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human.</strong>
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Genomics 41: 275-278, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9143506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9143506</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9143506" 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.1997.4658" target="_blank">Full Text</a>]
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Shimada1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shimada, Y., Okuno, S., Kawai, A., Shinomiya, H., Saito, A., Suzuki, M., Omori, Y., Nishino, N., Kanemoto, N., Fujiwara, T., Horie, M., Takahashi, E.
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<strong>Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia.</strong>
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J. Hum. Genet. 43: 115-122, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9621516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9621516</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9621516" 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/10.1007/s100380050051" target="_blank">Full Text</a>]
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</p>
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<a id="10" class="mim-anchor"></a>
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<a id="Xiong2021" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Xiong, S., Jia, Y., Li, S., Huang, P., Xiong, J., Mao, D., He, Q., Liu, L.
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<strong>The first case report of X-linked sideroblastic anemia with ataxia of Chinese origin and literature review.</strong>
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Front. Pediat. 9: 692459, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34354969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34354969</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34354969[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=34354969" 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/10.3389/fped.2021.692459" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 06/26/2024
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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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Patricia A. Hartz - updated : 11/11/2009<br>Victor A. McKusick - updated : 6/3/2002<br>Victor A. McKusick - updated : 1/5/2001<br>Victor A. McKusick - updated : 4/29/1999<br>Patti M. Sherman - updated : 7/9/1998
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</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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Patti M. Sherman : 6/25/1998
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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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 class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 07/01/2024
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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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ckniffin : 06/26/2024<br>carol : 03/17/2016<br>mgross : 11/16/2009<br>terry : 11/11/2009<br>cwells : 6/18/2002<br>cwells : 6/17/2002<br>terry : 6/3/2002<br>mcapotos : 1/10/2001<br>terry : 1/5/2001<br>carol : 11/9/1999<br>alopez : 5/4/1999<br>alopez : 5/4/1999<br>terry : 4/29/1999<br>terry : 4/29/1999<br>psherman : 12/2/1998<br>carol : 7/9/1998<br>dholmes : 7/9/1998<br>carol : 6/25/1998
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</span>
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</div>
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 300135
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</h3>
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<h3>
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<span class="mim-font">
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ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 7; ABCB7
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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ATP-BINDING CASSETTE 7; ABC7<br />
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ATP-BINDING CASSETTE TRANSPORTER 7<br />
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ABC TRANSPORTER 7
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ABCB7</em></strong>
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</span>
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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: Xq13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : X:75,051,048-75,156,283 </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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</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>
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<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>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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Xq13.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Anemia, sideroblastic, with ataxia
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</span>
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</td>
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<td>
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<span class="mim-font">
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301310
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</span>
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</td>
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<td>
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<span class="mim-font">
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X-linked
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The ABCB7 gene encodes a member of the large, highly conserved ATP-binding cassette (ABC) transporter family, which transport a variety of substrates across cell and organelle membranes. ABCB7 localizes to the inner mitochondrial membrane and is involved in iron homeostasis (summary by Allikmets et al., 1999; D'Hooghe et al., 2012). For background information on ABC transporters, see 300135. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Savary et al. (1997) isolated a 2,684-bp mouse cDNA of a novel ABC transporter, Abc7, from a macrophage cDNA library. Beginning with the first ATG at 196, the Abc7 cDNA is predicted to encode a 629-amino acid protein with 6 transmembrane segments followed by a canonical ATP-binding cassette, features typical of a half-transporter. A search of the human EST databases identified a 1,109-bp clone from a fetal liver spleen cDNA library that showed 92% nucleotide sequence identity to mouse Abc7. The putative protein product encoded by this clone is 94% identical to the C-terminal 340 amino acids of mouse Abc7. These high sequence identities led Savary et al. (1997) to conclude that the EST clone is the human ortholog of Abc7. Northern blot analysis detected an approximately 3-kb ABC7 transcript in human heart, skeletal muscle, pancreas, lung, liver, placenta, and several cell lines, but not in brain. Northern blot analysis performed on mouse embryos showed that Abc7 was expressed through all the developmental stages examined, beginning at embryonic day 6.5. A search of sequence databases revealed that ABC7 has the highest homology with 2 yeast ABC transporters. Since one of these, S. Pombe Htm1, is required for heavy-metal tolerance in yeast, Savary et al. (1997) speculated that ABC7 may be involved in metal homeostasis. Furthermore, Savary et al. (1997) noted that diseases due to altered </p><p>Shimada et al. (1998) identified a human EST showing high sequence similarity to the mouse Abc7 gene and the yeast ATM1 gene, which encodes an ABC half-transporter located in the mitochondrial inner membrane. To obtain the complete human ABC7 cDNA sequence, they isolated additional cDNAs from a human fetal brain cDNA library. The predicted 752-amino acid ABC7 protein contains 4 transmembrane domains and an N-terminal mitochondrial targeting sequence. Human ABC7 has 92% and 49% amino acid sequence identity with mouse Abc7 and yeast ATM1, respectively. Northern blot analysis of human tissues detected a single 2.6-kb ABC7 transcript that was strongly expressed in skeletal muscle and heart. Shimada et al. (1998) suggested that ABC7 is a half-transporter involved in the transport of heme from the mitochondria to the cytosol. </p><p>Allikmets et al. (1999) cloned the full-length ABC7 cDNA. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bekri et al. (2000) determined that the ABCB7 gene contains 16 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By in situ hybridization, Savary et al. (1997) mapped the human and mouse ABC7 genes to chromosomes Xq12-q13 and XC-XD, respectively, regions that show homology of synteny. </p><p>By fluorescence in situ hybridization, Shimada et al. (1998) refined the localization of the human ABC7 gene to chromosome Xq13.1-q13.3. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected males from a family with X-linked spinocerebellar ataxia-6 with sideroblastic anemia (SCAX6; 301310), originally reported by Pagon et al. (1985), Allikmets et al. (1999) identified a hemizygous missense mutation in the ABCB7 gene (I400M; 300135.0001). The mutation, which occurred in a predicted transmembrane segment of the protein, was found to segregate with the disease in the family. Introduction of the corresponding mutation into the orthologous Saccharomyces cerevisiae gene resulted in a partial loss of function of the yeast ATM1 protein. In addition, the human wildtype ABCB7 protein was able to complement ATM1 deletion in yeast. The data indicated that ABCB7 is the causal gene of SCAX6 and that SCAX6 is a mitochondrial disease caused by mutation in the nuclear genome. </p><p>Bekri et al. (2000) identified a second missense mutation in the ABCB7 gene (E433K; 300135.0002) as the cause of SCAX6 in a family. </p><p>In 2 brothers with SCAX6, originally reported by Hellier et al. (2001), Maguire et al. (2001) identified a hemizygous missense mutation in the ABCB7 gene (V411L; 300135.0003). The mother was heterozygous for the mutation, and a maternal uncle with ataxia was hemizygous for the mutation. Functional studies of the variant were not performed. </p><p>In a 5-year-old boy with SCAX6, D'Hooghe et al. (2012) identified a hemizygous missense mutation in the ABCB7 gene (E209D; 300135.0004). Functional studies of the variant and studies of patient cells were not performed. </p><p>In a 5-year-old Chinese boy with SCAX6, Xiong et al. (2021) identified a hemizygous missense mutation in the ABCB7 gene (D675G; 300135.0005). The mutation, which was found by whole-exome sequencing, was inherited from the mother, who had only subtle anemia. The variant was not present in the gnomAD database. Functional studies of the variant were not performed. </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>Pondarre et al. (2006) found that mouse embryonic stem cells and male mouse embryos expressing a conditionally deleted Abcb7 allele were not viable. Maternally-inherited Abcb7 deletion was lethal to female embryos. By breeding a series of conditionally deleted transgenic lines, Pondarre et al. (2006) demonstrated that lethality was due to a defect in extraembryonic visceral endoderm, which, like all other extraembryonic tissue, preferentially maintains the female X chromosome as the active allele. X-inactivation assays and tissue-specific deletion showed that Abcb7 was essential in all tissues except hepatocytes and endothelial cells. In liver, loss of Abcb7 resulted in mild mitochondrial injury, impaired cytosolic Fe-S cluster assembly, and altered iron sensing by Irp1 (ACO1; 100880), which contributed to dysregulation of hepatocyte iron metabolism and increased total liver iron. </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>5 Selected Examples):</strong>
|
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</span>
|
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</h4>
|
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<div>
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<p />
|
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 SPINOCEREBELLAR ATAXIA, X-LINKED 6, WITH SIDEROBLASTIC ANEMIA</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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ABCB7, ILE400MET
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<br />
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SNP: rs72554634,
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gnomAD: rs72554634,
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ClinVar: RCV000012330, RCV000197371
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</span>
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</div>
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<span class="mim-text-font">
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<p>In affected males from a family with X-linked spinocerebellar ataxia-6 with sideroblastic anemia (SCAX6; 301310), originally reported by Pagon et al. (1985), Allikmets et al. (1999) identified a hemizygous ile400-to-met (I400M) mutation in the ABCB7 gene. The mutation, which occurred in a predicted transmembrane segment of the protein, was found to segregate with the disease in the family. The mutation was not detected in at least 600 chromosomes of general population controls. Introduction of the corresponding mutation into the orthologous Saccharomyces cerevisiae gene resulted in a partial loss of function of the yeast ATM1 protein. In addition, the human wildtype ABCB7 protein was able to complement ATM1 deletion in yeast. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 SPINOCEREBELLAR ATAXIA, X-LINKED 6, WITH SIDEROBLASTIC ANEMIA</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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ABCB7, GLU433LYS
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<br />
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SNP: rs80356714,
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ClinVar: RCV000012331
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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>Bekri et al. (2000) described a family in which affected males with X-linked spinocerebellar ataxia-6 with sideroblastic anemia (SCAX6; 301310) had a hemizygous missense mutation in exon 10 of the ABC7 gene: a c.1305G-A transition, resulting in a glu433-to-lys (E433K) substitution located C-terminal to the putative sixth transmembrane domain of ABCB7. In the older brother, congenital ataxia had been diagnosed at the age of 4. The ataxia was nonprogressive, and computed tomography of the brain at age 18 showed striking, selective cerebellar hypoplasia. The mother's blood film showed dimorphism, consistent with an X-linked defect. The anemia was refractory to treatment with pyridoxine. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 SPINOCEREBELLAR ATAXIA, X-LINKED 6, WITH SIDEROBLASTIC ANEMIA</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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ABCB7, VAL411LEU
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<br />
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SNP: rs80356713,
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ClinVar: RCV000012332
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 brothers with X-linked spinocerebellar ataxia-6 with sideroblastic anemia (SCAX6; 301310) originally reported by Hellier et al. (2001), Maguire et al. (2001) identified a hemizygous c.1299G-C transversion in the ABCB7 gene, resulting in a val411-to-leu (V411L) substitution at the beginning of the last of 6 putative transmembrane regions of the protein. The mother was heterozygous for the mutation, and a maternal uncle with ataxia was hemizygous for the mutation. The patients had ataxia and hypochromic red cells with increased erythrocyte protoporphyrin despite normal iron stores. The mother was unaffected by ataxia and had normal iron stores, but showed evidence of some red cell hypochromia with heavy basophilic stippling that stained positive for iron. Bone marrow biopsy confirmed the presence of ring sideroblasts in one of the brothers. Functional studies of the variant were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 SPINOCEREBELLAR ATAXIA, X-LINKED 6, WITH SIDEROBLASTIC ANEMIA</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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ABCB7, GLU209ASP
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<br />
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SNP: rs515726147,
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ClinVar: RCV000114380
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 5-year-old boy with X-linked spinocerebellar ataxia-6 with sideroblastic anemia (SCAX6; 301310), D'Hooghe et al. (2012) identified a hemizygous c.627A-T transition in the ABCB7 gene, predicted to result in a glu209-to-asp (E209D) substitution at a conserved residue adjacent to the second transmembrane domain at the mitochondrial side, which may affect protein folding. The mutation was present in the heterozygous state in the mother, who had no symptoms, but showed mild hematologic abnormalities on peripheral blood smear. Functional studies of the variant and studies of patient cells were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 SPINOCEREBELLAR ATAXIA, X-LINKED 6, WITH SIDEROBLASTIC ANEMIA</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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ABCB7, ASP675GLY
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<br />
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ClinVar: RCV004584290
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 5-year-old Chinese boy with X-linked spinocerebellar ataxia-6 with sideroblastic anemia (SCAX6; 301310), Xiong et al. (2021) identified a hemizygous c.2024A-G transition (c.2024A-G, NM_004299) in the ABCB7 gene, resulting in an asp675-to-gly (D675G) substitution. The mutation, which was found by whole-exome sequencing, was inherited from the mother, who had only subtle anemia. The variant was not present in the gnomAD database. Functional studies of the variant and studies of patient cells were not performed. In addition to ataxia and mild anemia, the patient had global developmental delay and early-onset seizures. </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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Allikmets, R., Raskind, W. H., Hutchinson, A., Schueck, N. D., Dean, M., Koeller, D. M.
|
|
<strong>Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).</strong>
|
|
Hum. Molec. Genet. 8: 743-749, 1999.
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[PubMed: 10196363]
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[Full Text: https://doi.org/10.1093/hmg/8.5.743]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bekri, S., Kispal, G., Lange, H., Fitzsimons, E., Tolmie, J., Lill, R., Bishop, D. F.
|
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<strong>Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.</strong>
|
|
Blood 96: 3256-3264, 2000.
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[PubMed: 11050011]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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D'Hooghe, M., Selleslag, D., Mortier, G., Van Coster, R., Vermeersch, P., Billiet, J., Bekri, S.
|
|
<strong>X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.</strong>
|
|
Europ. J. Paediat. Neurol. 16: 730-735, 2012.
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[PubMed: 22398176]
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[Full Text: https://doi.org/10.1016/j.ejpn.2012.02.003]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hellier, K. D., Hatchwell, E., Duncombe, A. S., Kew, J., Hammans, S. R.
|
|
<strong>X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 70: 65-69, 2001.
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[PubMed: 11118249]
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[Full Text: https://doi.org/10.1136/jnnp.70.1.65]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Maguire, A., Hellier, K., Hammans, S., May, A.
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<strong>X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.</strong>
|
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Brit. J. Haemat. 115: 910-917, 2001.
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[PubMed: 11843825]
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[Full Text: https://doi.org/10.1046/j.1365-2141.2001.03015.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Pagon, R. A., Bird, T. D., Detter, J. C., Pierce, I.
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<strong>Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder.</strong>
|
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J. Med. Genet. 22: 267-273, 1985.
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[PubMed: 4045952]
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[Full Text: https://doi.org/10.1136/jmg.22.4.267]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Pondarre, C., Antiochos, B. B., Campagna, D. R., Clarke, S. L., Greer, E. L., Deck, K. M., McDonald, A., Han, A.-P., Medlock, A., Kutok, J. L., Anderson, S. A., Eisenstein, R. S., Fleming, M. D.
|
|
<strong>The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis.</strong>
|
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Hum. Molec. Genet. 15: 953-964, 2006.
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[PubMed: 16467350]
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[Full Text: https://doi.org/10.1093/hmg/ddl012]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Savary, S., Allikmets, R., Denizot, F., Luciani, M.-F., Mattei, M.-G., Dean, M., Chimini, G.
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<strong>Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human.</strong>
|
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Genomics 41: 275-278, 1997.
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[PubMed: 9143506]
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[Full Text: https://doi.org/10.1006/geno.1997.4658]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Shimada, Y., Okuno, S., Kawai, A., Shinomiya, H., Saito, A., Suzuki, M., Omori, Y., Nishino, N., Kanemoto, N., Fujiwara, T., Horie, M., Takahashi, E.
|
|
<strong>Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia.</strong>
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J. Hum. Genet. 43: 115-122, 1998.
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[PubMed: 9621516]
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[Full Text: https://doi.org/10.1007/s100380050051]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Xiong, S., Jia, Y., Li, S., Huang, P., Xiong, J., Mao, D., He, Q., Liu, L.
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<strong>The first case report of X-linked sideroblastic anemia with ataxia of Chinese origin and literature review.</strong>
|
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Front. Pediat. 9: 692459, 2021.
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[PubMed: 34354969]
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[Full Text: https://doi.org/10.3389/fped.2021.692459]
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</li>
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</ol>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 06/26/2024<br>Patricia A. Hartz - updated : 11/11/2009<br>Victor A. McKusick - updated : 6/3/2002<br>Victor A. McKusick - updated : 1/5/2001<br>Victor A. McKusick - updated : 4/29/1999<br>Patti M. Sherman - updated : 7/9/1998
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</span>
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<span class="mim-text-font">
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Patti M. Sherman : 6/25/1998
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<span class="mim-text-font">
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alopez : 07/01/2024<br>ckniffin : 06/26/2024<br>carol : 03/17/2016<br>mgross : 11/16/2009<br>terry : 11/11/2009<br>cwells : 6/18/2002<br>cwells : 6/17/2002<br>terry : 6/3/2002<br>mcapotos : 1/10/2001<br>terry : 1/5/2001<br>carol : 11/9/1999<br>alopez : 5/4/1999<br>alopez : 5/4/1999<br>terry : 4/29/1999<br>terry : 4/29/1999<br>psherman : 12/2/1998<br>carol : 7/9/1998<br>dholmes : 7/9/1998<br>carol : 6/25/1998
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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