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Entry
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- *603214 - ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 4; ABCD4
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- OMIM
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<p>
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<span class="h4">*603214</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603214">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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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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</ul>
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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=ENSG00000119688;t=ENST00000356924" 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=5826" 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=603214" 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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<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=ENSG00000119688;t=ENST00000356924" 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_001353591,NM_001353592,NM_001353593,NM_001353594,NM_001353595,NM_001353596,NM_001353597,NM_001353598,NM_001353599,NM_001353600,NM_001353601,NM_001353602,NM_001353603,NM_001353604,NM_001353605,NM_001353606,NM_001353607,NM_001353608,NM_001353609,NM_001353610,NM_005050,NM_020324,NM_020325,NR_003256,NR_148466,NR_148467,NR_148468,NR_148469,NR_148470,NR_148471,NR_148472,NR_148473,NR_148474,XM_005267942,XM_011537041,XM_017021531,XM_024449677,XM_047431637,XM_047431639,XM_047431640" 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_005050" 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=603214" 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=04446&isoform_id=04446_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/ABCD4" 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/2343157,2706518,4826958,6831464,10947129,10947131,15215442,28193152,28193226,30583663,46426680,48146325,119601571,119601572,119601573,119601574,119601575,119601576,119601577,119601578,158256100,221042030,530404363,767981214,1034587783,1216866451,1216866454,1216866456,1216866460,1216866463,1216866467,1216866471,1216866474,1216866480,1216866482,1216866486,1216866488,1216866490,1216866492,1216866494,1216866509,1216866511,1216866517,1216866519,1217324475,1370465397,2217298173,2217298176,2217298179,2462541164,2462541166,2462541168,2462541170,2462541172,2462541174,2462541176" 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/O14678" 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=5826" 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=ENSG00000119688;t=ENST00000356924" 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=ABCD4" 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=ABCD4" 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+5826" 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/ABCD4" 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:5826" 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/5826" 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=chr14&hgg_gene=ENST00000356924.9&hgg_start=74285269&hgg_end=74302934&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:68" 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/abcd4" 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=603214[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=603214[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/ABCD4/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000119688" 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=ABCD4" 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=ABCD4" 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=ABCD4" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ABCD4&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/PA24403" 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:68" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1349217" 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/ABCD4#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:1349217" 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/5826/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=5826" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
|
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00004060;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00004060 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00004062;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00004062 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-050517-30" 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:5826" 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=ABCD4&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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603214
|
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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 D, MEMBER 4; ABCD4
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</span>
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</h3>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
PEROXISOMAL MEMBRANE PROTEIN 1-LIKE; PXMP1L<br />
|
|
P70R<br />
|
|
PMP69
|
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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>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ABCD4" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ABCD4</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/14/383?start=-3&limit=10&highlight=383">14q24.3</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr14:74285269-74302934&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'})">14:74,285,269-74,302,934</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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|
|
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|
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</span>
|
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</p>
|
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</div>
|
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|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/14/383?start=-3&limit=10&highlight=383">
|
|
14q24.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Methylmalonic aciduria and homocystinuria, cblJ type
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614857"> 614857 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
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|
|
|
</tr>
|
|
|
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</tbody>
|
|
</table>
|
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</div>
|
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</div>
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<div>
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<p>The ABCD4 gene encodes a protein with several transmembrane domains and ATPase function. There is a cytosolic nucleotide (ATP)-binding domain with highly conserved motifs at the C terminus. The protein is involved in the intracellular processing of cobalamin (vitamin B12) (summary by <a href="#2" class="mim-tip-reference" title="Coelho, D., Kim, J. C., Miousse, I. R., Fung, S., du Moulin, M., Buers, I., Suormala, T., Burda, P., Frapolli, M., Stucki, M., Nurnberg, P., Thiele, H., and 12 others. <strong>Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.</strong> Nature Genet. 44: 1152-1155, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22922874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22922874</a>] [<a href="https://doi.org/10.1038/ng.2386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22922874">Coelho et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22922874" 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>The peroxisomal membrane contains several ATP-binding cassette (ABC) transporters, including PMP70 (ABCD3; <a href="/entry/170995">170995</a>), ALDP (ABCD1; <a href="/entry/300371">300371</a>), and ALDR (ABCD2; <a href="/entry/601081">601081</a>). All 3 proteins are ABC half-transporters, which dimerize to form an active transporter. See <a href="/entry/603076">603076</a>. By searching an EST database for homologs of PMP70 and ALDP, <a href="#7" class="mim-tip-reference" title="Shani, N., Jimenez-Sanchez, G., Steel, G., Dean, M., Valle, D. <strong>Identification of a fourth half ABC transporter in the human peroxisomal membrane.</strong> Hum. Molec. Genet. 6: 1925-1931, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9302272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9302272</a>] [<a href="https://doi.org/10.1093/hmg/6.11.1925" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9302272">Shani et al. (1997)</a> and <a href="#3" class="mim-tip-reference" title="Holzinger, A., Kammerer, S., Roscher, A. A. <strong>Primary structure of human PMP69, a putative peroxisomal ABC-transporter.</strong> Biochem. Biophys. Res. Commun. 237: 152-157, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9266848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9266848</a>] [<a href="https://doi.org/10.1006/bbrc.1997.7102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9266848">Holzinger et al. (1997)</a> identified PXMP1L cDNAs. They respectively designated the gene P70R and PMP69. <a href="#7" class="mim-tip-reference" title="Shani, N., Jimenez-Sanchez, G., Steel, G., Dean, M., Valle, D. <strong>Identification of a fourth half ABC transporter in the human peroxisomal membrane.</strong> Hum. Molec. Genet. 6: 1925-1931, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9302272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9302272</a>] [<a href="https://doi.org/10.1093/hmg/6.11.1925" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9302272">Shani et al. (1997)</a> reported that the predicted 606-amino acid protein has the structure of an ABC half-transporter and shares 25 to 27% sequence identity with PMP70, ALDR, and ALDP. Antibodies against PXMP1L detected a 73-kD protein on Western blots. Immunofluorescence studies localized the protein to peroxisomes. Northern blot analysis revealed that PXMP1L was expressed as a 2.6-kb mRNA in all tissues examined. <a href="#3" class="mim-tip-reference" title="Holzinger, A., Kammerer, S., Roscher, A. A. <strong>Primary structure of human PMP69, a putative peroxisomal ABC-transporter.</strong> Biochem. Biophys. Res. Commun. 237: 152-157, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9266848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9266848</a>] [<a href="https://doi.org/10.1006/bbrc.1997.7102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9266848">Holzinger et al. (1997)</a> and <a href="#4" class="mim-tip-reference" title="Holzinger, A., Roscher, A. A., Landgraf, P., Lichtner, P., Kammerer, S. <strong>Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter.</strong> FEBS Lett. 426: 238-242, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9599016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9599016</a>] [<a href="https://doi.org/10.1016/s0014-5793(98)00354-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9599016">Holzinger et al. (1998)</a> found transcript variants resulting from alternative splicing and use of alternative polyadenylation sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9266848+9599016+9302272" 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="#4" class="mim-tip-reference" title="Holzinger, A., Roscher, A. A., Landgraf, P., Lichtner, P., Kammerer, S. <strong>Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter.</strong> FEBS Lett. 426: 238-242, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9599016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9599016</a>] [<a href="https://doi.org/10.1016/s0014-5793(98)00354-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9599016">Holzinger et al. (1998)</a> reported that the PXMP1L gene contains 19 exons and spans approximately 16 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9599016" 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 analysis of a somatic cell hybrid panel and by identity with mapped clones, <a href="#7" class="mim-tip-reference" title="Shani, N., Jimenez-Sanchez, G., Steel, G., Dean, M., Valle, D. <strong>Identification of a fourth half ABC transporter in the human peroxisomal membrane.</strong> Hum. Molec. Genet. 6: 1925-1931, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9302272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9302272</a>] [<a href="https://doi.org/10.1093/hmg/6.11.1925" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9302272">Shani et al. (1997)</a> mapped the PXMP1L gene to 14q24. <a href="#4" class="mim-tip-reference" title="Holzinger, A., Roscher, A. A., Landgraf, P., Lichtner, P., Kammerer, S. <strong>Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter.</strong> FEBS Lett. 426: 238-242, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9599016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9599016</a>] [<a href="https://doi.org/10.1016/s0014-5793(98)00354-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9599016">Holzinger et al. (1998)</a> confirmed this localization by fluorescence in situ hybridization. They noted that part of a PXMP1L cDNA was included in a cosmid derived from chromosome 14q24.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9599016+9302272" 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="Coelho, D., Kim, J. C., Miousse, I. R., Fung, S., du Moulin, M., Buers, I., Suormala, T., Burda, P., Frapolli, M., Stucki, M., Nurnberg, P., Thiele, H., and 12 others. <strong>Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.</strong> Nature Genet. 44: 1152-1155, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22922874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22922874</a>] [<a href="https://doi.org/10.1038/ng.2386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22922874">Coelho et al. (2012)</a> demonstrated that ABCD4 colocalized with the lysosomal proteins LAMP1 (<a href="/entry/153330">153330</a>) and LMBRD1 (<a href="/entry/612625">612625</a>), the latter of which is deficient in methylmalonic aciduria and homocystinuria, type cblF (MAHCF; <a href="/entry/277380">277380</a>). Cellular studies with mutant ABCD4 alleles indicated that the ATPase domain of ABCD4 may be involved in the intracellular processing of vitamin B12 (cobalamin). The biochemical findings and localization studies suggested that ABCD4 is involved in the lysosomal release of cbl into the cytoplasm. Although ABCD4 was initially thought to be a peroxisomal protein, <a href="#2" class="mim-tip-reference" title="Coelho, D., Kim, J. C., Miousse, I. R., Fung, S., du Moulin, M., Buers, I., Suormala, T., Burda, P., Frapolli, M., Stucki, M., Nurnberg, P., Thiele, H., and 12 others. <strong>Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.</strong> Nature Genet. 44: 1152-1155, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22922874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22922874</a>] [<a href="https://doi.org/10.1038/ng.2386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22922874">Coelho et al. (2012)</a> provided evidence against the involvement of peroxisomes in cbl metabolism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22922874" 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>Using immunoprecipitation and confocal microscopy analyses in human hepatoma and embryonic kidney cells and Chinese hamster ovary cells, <a href="#5" class="mim-tip-reference" title="Kawaguchi, K., Okamoto, T., Morita, M., Imanaka, T. <strong>Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.</strong> Sci. Rep. 6: 30183, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27456980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27456980</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27456980[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/10.1038/srep30183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27456980">Kawaguchi et al. (2016)</a> demonstrated that ABCD4 interacted with LMBD1 (LMBRD1; <a href="/entry/612625">612625</a>) and then localized to lysosomes in a manner dependent on the lysosome targeting ability of LMBD1. Knockout of LMBRD1 disturbed ABCD4 localization to lysosomes, but not to the endoplasmic reticulum (ER). <a href="#5" class="mim-tip-reference" title="Kawaguchi, K., Okamoto, T., Morita, M., Imanaka, T. <strong>Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.</strong> Sci. Rep. 6: 30183, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27456980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27456980</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27456980[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/10.1038/srep30183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27456980">Kawaguchi et al. (2016)</a> concluded that translocation of ABCD4 from the ER to lysosomes requires, at least in part, LMBD1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27456980" 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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In 2 unrelated children with methylmalonic aciduria and homocystinuria type cblJ (MAHCJ; <a href="/entry/614857">614857</a>), <a href="#2" class="mim-tip-reference" title="Coelho, D., Kim, J. C., Miousse, I. R., Fung, S., du Moulin, M., Buers, I., Suormala, T., Burda, P., Frapolli, M., Stucki, M., Nurnberg, P., Thiele, H., and 12 others. <strong>Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.</strong> Nature Genet. 44: 1152-1155, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22922874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22922874</a>] [<a href="https://doi.org/10.1038/ng.2386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22922874">Coelho et al. (2012)</a> identified 4 different mutations in the ABCD4 gene (<a href="#0001">603214.0001</a>-<a href="#0004">603214.0004</a>) in compound heterozygous state. The mutations, which were found using microcell-mediated chromosome transfer and exome sequencing, resulted in a loss of function. The patients presented soon after birth with hypotonia, respiratory distress, and evidence of bone marrow failure. One child had mild dysmorphic features, cardiac abnormalities, and delayed psychomotor development. Biochemical studies confirmed a defect in cobalamin metabolism and were similar to abnormalities observed in patients with cblF (<a href="/entry/277380">277380</a>). Patient cell lines showed no rescue of the defect when transfected with LMBRD1 (<a href="/entry/612625">612625</a>), suggesting that these 2 genes function in the same pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22922874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Kitai, K., Kawaguchi, K., Tomohiro, T., Morita, M., So, T., Imanaka, T. <strong>The lysosomal protein ABCD4 can transport vitamin B-12 across liposomal membranes in vitro.</strong> J. Biol. Chem. 296: 100654, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33845046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33845046</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33845046[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/10.1016/j.jbc.2021.100654" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33845046">Kitai et al. (2021)</a> expressed ABCD4 and LMBRD1 on the surface of cobalamin-loaded liposomes to examine their roles in lysosomal cobalamin transport. ABCD4 transported cobalamin from the inside to the outside of the liposomes in an ATP-dependent manner, whereas LMBRD1 had no cobalamin transport activity. <a href="#6" class="mim-tip-reference" title="Kitai, K., Kawaguchi, K., Tomohiro, T., Morita, M., So, T., Imanaka, T. <strong>The lysosomal protein ABCD4 can transport vitamin B-12 across liposomal membranes in vitro.</strong> J. Biol. Chem. 296: 100654, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33845046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33845046</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33845046[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/10.1016/j.jbc.2021.100654" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33845046">Kitai et al. (2021)</a> concluded that ABCD4 may have a cellular role in transporting cobalamin from the lysosome to the cytosol. <a href="#6" class="mim-tip-reference" title="Kitai, K., Kawaguchi, K., Tomohiro, T., Morita, M., So, T., Imanaka, T. <strong>The lysosomal protein ABCD4 can transport vitamin B-12 across liposomal membranes in vitro.</strong> J. Biol. Chem. 296: 100654, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33845046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33845046</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33845046[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/10.1016/j.jbc.2021.100654" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33845046">Kitai et al. (2021)</a> also studied the effects of several ABCD4 missense mutations identified in individuals with MAHJC to determine their mechanism of pathogenicity. R432Q, located on or close to the Walker A motif, had reduced ATPase activity compared to wildtype. N141K, located on the cytosolic side the TM3 motif, lacked cobalamin transport activity. Y319C (<a href="#0001">603214.0001</a>), located in the lysosomal side of the TM6 motif, lacked both cobalamin transport and ATPase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33845046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Expression of ABCD4 in Adrenoleukodystrophy</em></strong></p><p>
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Childhood cerebral adrenoleukodystrophy (CCER), adrenomyeloneuropathy (AMN), and AMN with cerebral demyelination are the main phenotypic variants of X-linked adrenoleukodystrophy (ALD; <a href="/entry/300100">300100</a>), which is caused by mutation in the ABCD1 gene (<a href="/entry/300371">300371</a>). The biochemical hallmark of ALD is the accumulation of very long chain fatty acids (VLCFA) in plasma and tissues. <a href="#1" class="mim-tip-reference" title="Asheuer, M., Bieche, I., Laurendeau, I., Moser, A., Hainque, B., Vidaud, M., Aubourg, P. <strong>Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.</strong> Hum. Molec. Genet. 14: 1293-1303, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15800013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15800013</a>] [<a href="https://doi.org/10.1093/hmg/ddi140" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15800013">Asheuer et al. (2005)</a> studied the expression of the ABCD1, ABCD2, ABCD3 (<a href="/entry/170995">170995</a>), and ABCD4 genes and 2 VLCFA synthetase genes, VLCS (SLC27A2; <a href="/entry/603247">603247</a>) and BG1 (ACSBG1; <a href="/entry/614362">614362</a>), in fibroblasts and brains from normal controls and ALD patients with the 3 main phenotypes, and they studied VLCFA concentrations in normal-appearing white matter from ALD patients with the 3 main phenotypes. The authors showed that ABCD1-truncating mutations were unlikely to cause variation in the ALD phenotype. Accumulation of saturated VLCFA in normal-appearing white matter correlated with ALD phenotype. Expression of ABCD4 and BG1, but not of the ABCD2, ABCD3, and VLCS genes, tended to correlate with the severity of the disease, acting early in the pathogenesis of ALD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15800013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>4 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603214[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs201777056 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201777056;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs201777056?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs201777056" 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=rs201777056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a North American child with methylmalonic aciduria and homocystinuria of complementation group J (MAHCJ; <a href="/entry/614857">614857</a>), <a href="#2" class="mim-tip-reference" title="Coelho, D., Kim, J. C., Miousse, I. R., Fung, S., du Moulin, M., Buers, I., Suormala, T., Burda, P., Frapolli, M., Stucki, M., Nurnberg, P., Thiele, H., and 12 others. <strong>Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.</strong> Nature Genet. 44: 1152-1155, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22922874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22922874</a>] [<a href="https://doi.org/10.1038/ng.2386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22922874">Coelho et al. (2012)</a> identified compound heterozygosity for 2 mutations in the ABCD4 gene: a 956A-G transition resulting in a tyr319-to-cys (Y319C) substitution in the last transmembrane domain, and a 2-bp insertion (1746insCT; <a href="#0001">603214.0001</a>), resulting in a frameshift and premature termination (Glu583LeufsTer9) leading to the removal of 14 residues from the C terminus in the predicted cytosolic nucleotide binding domain. The mutations were identified by exome sequencing and confirmed by Sanger sequencing. Each unaffected parent was heterozygous for one of the mutations. Neither mutation was found in the 1000 Genomes Project database. Expression of wildtype ABCD4 in patient fibroblasts led to rescue of the biochemical phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22922874" 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>For discussion of the 2-bp insertion (1746insCT) in the ABCD4 gene that was found in compound heterozygous state in a child with methylmalonic aciduria and homocystinuria (MAHCJ; <a href="/entry/614857">614857</a>) by <a href="#2" class="mim-tip-reference" title="Coelho, D., Kim, J. C., Miousse, I. R., Fung, S., du Moulin, M., Buers, I., Suormala, T., Burda, P., Frapolli, M., Stucki, M., Nurnberg, P., Thiele, H., and 12 others. <strong>Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.</strong> Nature Genet. 44: 1152-1155, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22922874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22922874</a>] [<a href="https://doi.org/10.1038/ng.2386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22922874">Coelho et al. (2012)</a>, see <a href="#0001">603214.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22922874" 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 a European child with methylmalonic aciduria and homocystinuria, complementation group J (MAHCJ; <a href="/entry/614857">614857</a>), <a href="#2" class="mim-tip-reference" title="Coelho, D., Kim, J. C., Miousse, I. R., Fung, S., du Moulin, M., Buers, I., Suormala, T., Burda, P., Frapolli, M., Stucki, M., Nurnberg, P., Thiele, H., and 12 others. <strong>Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.</strong> Nature Genet. 44: 1152-1155, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22922874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22922874</a>] [<a href="https://doi.org/10.1038/ng.2386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22922874">Coelho et al. (2012)</a> identified compound heterozygosity for 2 splice site mutations in the ABCD4 gene: a G-T transversion in intron 5 (542+1G-T), resulting in the skipping of exon 5 (D143_S181del), which encodes one of the transmembrane domains, and a 1456G-T transversion at the last nucleotide in exon 14, resulting in the skipping of exons 13 and 14 (G443_S485del; <a href="#0004">603214.0004</a>) in the cytosolic nucleotide binding domain. The mutations were identified by microcell-mediated chromosome transfer and exome sequencing. Neither mutation was found in the 1000 Genomes Project database. Expression of wildtype ABCD4 in patient fibroblasts led to rescue of the biochemical phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22922874" 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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ABCD4, 1456G-T
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2080853826 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2080853826;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=rs2080853826" 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=rs2080853826" 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=RCV000030862" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030862" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030862</a>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the 1456G-T transversion at the last nucleotide in exon 14 of the ABCD4 gene that was found in compound heterozygous state in a child with methylmalonic aciduria and homocystinuria (MAHCJ; <a href="/entry/614857">614857</a>) by <a href="#2" class="mim-tip-reference" title="Coelho, D., Kim, J. C., Miousse, I. R., Fung, S., du Moulin, M., Buers, I., Suormala, T., Burda, P., Frapolli, M., Stucki, M., Nurnberg, P., Thiele, H., and 12 others. <strong>Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.</strong> Nature Genet. 44: 1152-1155, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22922874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22922874</a>] [<a href="https://doi.org/10.1038/ng.2386" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22922874">Coelho et al. (2012)</a>, see <a href="#0003">603214.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22922874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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</div>
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<div>
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<a id="references"class="mim-anchor"></a>
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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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</span>
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</h4>
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<div>
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<p />
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<ol>
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<li>
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<a id="1" class="mim-anchor"></a>
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<a id="Asheuer2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Asheuer, M., Bieche, I., Laurendeau, I., Moser, A., Hainque, B., Vidaud, M., Aubourg, P.
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<strong>Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.</strong>
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Hum. Molec. Genet. 14: 1293-1303, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15800013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15800013</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15800013" 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/ddi140" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Coelho2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Coelho, D., Kim, J. C., Miousse, I. R., Fung, S., du Moulin, M., Buers, I., Suormala, T., Burda, P., Frapolli, M., Stucki, M., Nurnberg, P., Thiele, H., and 12 others.
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<strong>Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.</strong>
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Nature Genet. 44: 1152-1155, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22922874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22922874</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22922874" 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/10.1038/ng.2386" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Holzinger1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Holzinger, A., Kammerer, S., Roscher, A. A.
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<strong>Primary structure of human PMP69, a putative peroxisomal ABC-transporter.</strong>
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Biochem. Biophys. Res. Commun. 237: 152-157, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9266848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9266848</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9266848" 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/bbrc.1997.7102" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Holzinger1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Holzinger, A., Roscher, A. A., Landgraf, P., Lichtner, P., Kammerer, S.
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<strong>Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter.</strong>
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FEBS Lett. 426: 238-242, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9599016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9599016</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9599016" 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/s0014-5793(98)00354-8" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Kawaguchi2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kawaguchi, K., Okamoto, T., Morita, M., Imanaka, T.
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<strong>Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.</strong>
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Sci. Rep. 6: 30183, 2016. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27456980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27456980</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27456980[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=27456980" 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/10.1038/srep30183" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Kitai2021" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kitai, K., Kawaguchi, K., Tomohiro, T., Morita, M., So, T., Imanaka, T.
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<strong>The lysosomal protein ABCD4 can transport vitamin B-12 across liposomal membranes in vitro.</strong>
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J. Biol. Chem. 296: 100654, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33845046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33845046</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33845046[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=33845046" 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.jbc.2021.100654" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Shani1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shani, N., Jimenez-Sanchez, G., Steel, G., Dean, M., Valle, D.
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<strong>Identification of a fourth half ABC transporter in the human peroxisomal membrane.</strong>
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Hum. Molec. Genet. 6: 1925-1931, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9302272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9302272</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9302272" 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/6.11.1925" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<br />
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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<div 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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Hilary J. Vernon - updated : 12/09/2021
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</span>
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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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Paul J. Converse - updated : 03/22/2017<br>Cassandra L. Kniffin - updated : 10/11/2012<br>George E. Tiller - updated : 5/30/2008
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</span>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="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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Rebekah S. Rasooly : 10/27/1998
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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="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/09/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/12/2018<br>carol : 03/25/2017<br>mgross : 03/22/2017<br>carol : 09/27/2013<br>carol : 10/12/2012<br>carol : 10/12/2012<br>ckniffin : 10/11/2012<br>mgross : 11/28/2011<br>wwang : 6/3/2008<br>terry : 5/30/2008<br>carol : 1/13/2003<br>carol : 11/9/1999<br>alopez : 10/27/1998
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603214
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 4; ABCD4
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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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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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PEROXISOMAL MEMBRANE PROTEIN 1-LIKE; PXMP1L<br />
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P70R<br />
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PMP69
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</span>
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</h4>
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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: ABCD4</em></strong>
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</span>
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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: 14q24.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 14:74,285,269-74,302,934 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<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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14q24.3
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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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Methylmalonic aciduria and homocystinuria, cblJ type
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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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614857
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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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Autosomal recessive
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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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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The ABCD4 gene encodes a protein with several transmembrane domains and ATPase function. There is a cytosolic nucleotide (ATP)-binding domain with highly conserved motifs at the C terminus. The protein is involved in the intracellular processing of cobalamin (vitamin B12) (summary by Coelho et al., 2012). </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>The peroxisomal membrane contains several ATP-binding cassette (ABC) transporters, including PMP70 (ABCD3; 170995), ALDP (ABCD1; 300371), and ALDR (ABCD2; 601081). All 3 proteins are ABC half-transporters, which dimerize to form an active transporter. See 603076. By searching an EST database for homologs of PMP70 and ALDP, Shani et al. (1997) and Holzinger et al. (1997) identified PXMP1L cDNAs. They respectively designated the gene P70R and PMP69. Shani et al. (1997) reported that the predicted 606-amino acid protein has the structure of an ABC half-transporter and shares 25 to 27% sequence identity with PMP70, ALDR, and ALDP. Antibodies against PXMP1L detected a 73-kD protein on Western blots. Immunofluorescence studies localized the protein to peroxisomes. Northern blot analysis revealed that PXMP1L was expressed as a 2.6-kb mRNA in all tissues examined. Holzinger et al. (1997) and Holzinger et al. (1998) found transcript variants resulting from alternative splicing and use of alternative polyadenylation sites. </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>Holzinger et al. (1998) reported that the PXMP1L gene contains 19 exons and spans approximately 16 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By analysis of a somatic cell hybrid panel and by identity with mapped clones, Shani et al. (1997) mapped the PXMP1L gene to 14q24. Holzinger et al. (1998) confirmed this localization by fluorescence in situ hybridization. They noted that part of a PXMP1L cDNA was included in a cosmid derived from chromosome 14q24.3. </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>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Coelho et al. (2012) demonstrated that ABCD4 colocalized with the lysosomal proteins LAMP1 (153330) and LMBRD1 (612625), the latter of which is deficient in methylmalonic aciduria and homocystinuria, type cblF (MAHCF; 277380). Cellular studies with mutant ABCD4 alleles indicated that the ATPase domain of ABCD4 may be involved in the intracellular processing of vitamin B12 (cobalamin). The biochemical findings and localization studies suggested that ABCD4 is involved in the lysosomal release of cbl into the cytoplasm. Although ABCD4 was initially thought to be a peroxisomal protein, Coelho et al. (2012) provided evidence against the involvement of peroxisomes in cbl metabolism. </p><p>Using immunoprecipitation and confocal microscopy analyses in human hepatoma and embryonic kidney cells and Chinese hamster ovary cells, Kawaguchi et al. (2016) demonstrated that ABCD4 interacted with LMBD1 (LMBRD1; 612625) and then localized to lysosomes in a manner dependent on the lysosome targeting ability of LMBD1. Knockout of LMBRD1 disturbed ABCD4 localization to lysosomes, but not to the endoplasmic reticulum (ER). Kawaguchi et al. (2016) concluded that translocation of ABCD4 from the ER to lysosomes requires, at least in part, LMBD1. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Methylmalonic Aciduria and Homocystinuria, cblJ Type</em></strong></p><p>
|
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In 2 unrelated children with methylmalonic aciduria and homocystinuria type cblJ (MAHCJ; 614857), Coelho et al. (2012) identified 4 different mutations in the ABCD4 gene (603214.0001-603214.0004) in compound heterozygous state. The mutations, which were found using microcell-mediated chromosome transfer and exome sequencing, resulted in a loss of function. The patients presented soon after birth with hypotonia, respiratory distress, and evidence of bone marrow failure. One child had mild dysmorphic features, cardiac abnormalities, and delayed psychomotor development. Biochemical studies confirmed a defect in cobalamin metabolism and were similar to abnormalities observed in patients with cblF (277380). Patient cell lines showed no rescue of the defect when transfected with LMBRD1 (612625), suggesting that these 2 genes function in the same pathway. </p><p>Kitai et al. (2021) expressed ABCD4 and LMBRD1 on the surface of cobalamin-loaded liposomes to examine their roles in lysosomal cobalamin transport. ABCD4 transported cobalamin from the inside to the outside of the liposomes in an ATP-dependent manner, whereas LMBRD1 had no cobalamin transport activity. Kitai et al. (2021) concluded that ABCD4 may have a cellular role in transporting cobalamin from the lysosome to the cytosol. Kitai et al. (2021) also studied the effects of several ABCD4 missense mutations identified in individuals with MAHJC to determine their mechanism of pathogenicity. R432Q, located on or close to the Walker A motif, had reduced ATPase activity compared to wildtype. N141K, located on the cytosolic side the TM3 motif, lacked cobalamin transport activity. Y319C (603214.0001), located in the lysosomal side of the TM6 motif, lacked both cobalamin transport and ATPase activity. </p><p><strong><em>Expression of ABCD4 in Adrenoleukodystrophy</em></strong></p><p>
|
|
Childhood cerebral adrenoleukodystrophy (CCER), adrenomyeloneuropathy (AMN), and AMN with cerebral demyelination are the main phenotypic variants of X-linked adrenoleukodystrophy (ALD; 300100), which is caused by mutation in the ABCD1 gene (300371). The biochemical hallmark of ALD is the accumulation of very long chain fatty acids (VLCFA) in plasma and tissues. Asheuer et al. (2005) studied the expression of the ABCD1, ABCD2, ABCD3 (170995), and ABCD4 genes and 2 VLCFA synthetase genes, VLCS (SLC27A2; 603247) and BG1 (ACSBG1; 614362), in fibroblasts and brains from normal controls and ALD patients with the 3 main phenotypes, and they studied VLCFA concentrations in normal-appearing white matter from ALD patients with the 3 main phenotypes. The authors showed that ABCD1-truncating mutations were unlikely to cause variation in the ALD phenotype. Accumulation of saturated VLCFA in normal-appearing white matter correlated with ALD phenotype. Expression of ABCD4 and BG1, but not of the ABCD2, ABCD3, and VLCS genes, tended to correlate with the severity of the disease, acting early in the pathogenesis of ALD. </p>
|
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
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<strong>4 Selected Examples):</strong>
|
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</span>
|
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</h4>
|
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE</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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ABCD4, TYR319CYS
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<br />
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|
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SNP: rs201777056,
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|
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gnomAD: rs201777056,
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|
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ClinVar: RCV000030859, RCV000059785, RCV002265570
|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a North American child with methylmalonic aciduria and homocystinuria of complementation group J (MAHCJ; 614857), Coelho et al. (2012) identified compound heterozygosity for 2 mutations in the ABCD4 gene: a 956A-G transition resulting in a tyr319-to-cys (Y319C) substitution in the last transmembrane domain, and a 2-bp insertion (1746insCT; 603214.0001), resulting in a frameshift and premature termination (Glu583LeufsTer9) leading to the removal of 14 residues from the C terminus in the predicted cytosolic nucleotide binding domain. The mutations were identified by exome sequencing and confirmed by Sanger sequencing. Each unaffected parent was heterozygous for one of the mutations. Neither mutation was found in the 1000 Genomes Project database. Expression of wildtype ABCD4 in patient fibroblasts led to rescue of the biochemical phenotype. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
|
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|
|
ABCD4, 2-BP INS, 1746CT
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<br />
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|
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SNP: rs387907315,
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|
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gnomAD: rs387907315,
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ClinVar: RCV000030860
|
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</span>
|
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</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 2-bp insertion (1746insCT) in the ABCD4 gene that was found in compound heterozygous state in a child with methylmalonic aciduria and homocystinuria (MAHCJ; 614857) by Coelho et al. (2012), see 603214.0001. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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ABCD4, IVS5DS, G-T, +1
|
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<br />
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SNP: rs769364566,
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|
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gnomAD: rs769364566,
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ClinVar: RCV000030861, RCV000373583
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a European child with methylmalonic aciduria and homocystinuria, complementation group J (MAHCJ; 614857), Coelho et al. (2012) identified compound heterozygosity for 2 splice site mutations in the ABCD4 gene: a G-T transversion in intron 5 (542+1G-T), resulting in the skipping of exon 5 (D143_S181del), which encodes one of the transmembrane domains, and a 1456G-T transversion at the last nucleotide in exon 14, resulting in the skipping of exons 13 and 14 (G443_S485del; 603214.0004) in the cytosolic nucleotide binding domain. The mutations were identified by microcell-mediated chromosome transfer and exome sequencing. Neither mutation was found in the 1000 Genomes Project database. Expression of wildtype ABCD4 in patient fibroblasts led to rescue of the biochemical phenotype. </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>.0004 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE</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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ABCD4, 1456G-T
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<br />
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SNP: rs2080853826,
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ClinVar: RCV000030862
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</span>
|
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</div>
|
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<div>
|
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<span class="mim-text-font">
|
|
<p>For discussion of the 1456G-T transversion at the last nucleotide in exon 14 of the ABCD4 gene that was found in compound heterozygous state in a child with methylmalonic aciduria and homocystinuria (MAHCJ; 614857) by Coelho et al. (2012), see 603214.0003. </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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Asheuer, M., Bieche, I., Laurendeau, I., Moser, A., Hainque, B., Vidaud, M., Aubourg, P.
|
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<strong>Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.</strong>
|
|
Hum. Molec. Genet. 14: 1293-1303, 2005.
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[PubMed: 15800013]
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[Full Text: https://doi.org/10.1093/hmg/ddi140]
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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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Coelho, D., Kim, J. C., Miousse, I. R., Fung, S., du Moulin, M., Buers, I., Suormala, T., Burda, P., Frapolli, M., Stucki, M., Nurnberg, P., Thiele, H., and 12 others.
|
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<strong>Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.</strong>
|
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Nature Genet. 44: 1152-1155, 2012.
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[PubMed: 22922874]
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[Full Text: https://doi.org/10.1038/ng.2386]
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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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Holzinger, A., Kammerer, S., Roscher, A. A.
|
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<strong>Primary structure of human PMP69, a putative peroxisomal ABC-transporter.</strong>
|
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Biochem. Biophys. Res. Commun. 237: 152-157, 1997.
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[PubMed: 9266848]
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[Full Text: https://doi.org/10.1006/bbrc.1997.7102]
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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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Holzinger, A., Roscher, A. A., Landgraf, P., Lichtner, P., Kammerer, S.
|
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<strong>Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter.</strong>
|
|
FEBS Lett. 426: 238-242, 1998.
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[PubMed: 9599016]
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[Full Text: https://doi.org/10.1016/s0014-5793(98)00354-8]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kawaguchi, K., Okamoto, T., Morita, M., Imanaka, T.
|
|
<strong>Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.</strong>
|
|
Sci. Rep. 6: 30183, 2016. Note: Electronic Article.
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[PubMed: 27456980]
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[Full Text: https://doi.org/10.1038/srep30183]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kitai, K., Kawaguchi, K., Tomohiro, T., Morita, M., So, T., Imanaka, T.
|
|
<strong>The lysosomal protein ABCD4 can transport vitamin B-12 across liposomal membranes in vitro.</strong>
|
|
J. Biol. Chem. 296: 100654, 2021.
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[PubMed: 33845046]
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[Full Text: https://doi.org/10.1016/j.jbc.2021.100654]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Shani, N., Jimenez-Sanchez, G., Steel, G., Dean, M., Valle, D.
|
|
<strong>Identification of a fourth half ABC transporter in the human peroxisomal membrane.</strong>
|
|
Hum. Molec. Genet. 6: 1925-1931, 1997.
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[PubMed: 9302272]
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[Full Text: https://doi.org/10.1093/hmg/6.11.1925]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 12/09/2021<br>Paul J. Converse - updated : 03/22/2017<br>Cassandra L. Kniffin - updated : 10/11/2012<br>George E. Tiller - updated : 5/30/2008
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Rebekah S. Rasooly : 10/27/1998
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