3219 lines
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Entry
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- *603287 - PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE; PNPO
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*603287</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="#geneFunction">Gene Function</a>
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603287">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>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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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 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=ENSG00000108439;t=ENST00000642017" 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=55163" 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=603287" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000108439;t=ENST00000642017" 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_018129" 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_018129" 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=603287" 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=04476&isoform_id=04476_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/PNPO" 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/7022629,8922498,13676378,21728336,37082126,62898045,119615176,119615177,194382784,194383386,194383556,209402804,308219288,2916232280" 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/Q9NVS9" 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=55163" 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=ENSG00000108439;t=ENST00000642017" 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=PNPO" 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=PNPO" 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+55163" 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/PNPO" 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:55163" 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/55163" 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=chr17&hgg_gene=ENST00000642017.2&hgg_start=47941571&hgg_end=47949308&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:30260" 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/pnpo" 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=603287[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=603287[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000108439" 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=PNPO" 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=PNPO" 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=PNPO" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.bh4.org/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=PNPO&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/PA134915565" 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:30260" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0051472.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2144151" 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/PNPO#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:2144151" 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/55163/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=55163" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00018996;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-060602-2" 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:55163" 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=PNPO&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 724576005<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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603287
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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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PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE; PNPO
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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PYRIDOXAMINE-PHOSPHATE OXIDASE<br />
|
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PYRIDOXAL 5-PRIME-PHOSPHATE SYNTHASE
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PNPO" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PNPO</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/17/685?start=-3&limit=10&highlight=685">17q21.32</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:47941571-47949308&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'})">17:47,941,571-47,949,308</a> </span>
|
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<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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<a href="/geneMap/17/685?start=-3&limit=10&highlight=685">
|
|
17q21.32
|
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</a>
|
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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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Pyridoxamine 5'-phosphate oxidase deficiency
|
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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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|
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<a href="/entry/610090"> 610090 </a>
|
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|
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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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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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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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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/603287" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/603287" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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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="text" class="mim-anchor"></a>
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<p>Vitamin B6, or pyridoxal 5-prime-phosphate (PLP), is critical for normal cellular function, and some cancer cells have notable differences in vitamin B6 metabolism compared to their normal counterparts. The rate-limiting enzyme in vitamin B6 synthesis is pyridoxine 5-prime-phosphate (PNP) oxidase (PNPO; <a href="https://enzyme.expasy.org/EC/1.4.3.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 1.4.3.5</a>).</p>
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<p><a href="#4" class="mim-tip-reference" title="Ngo, E. O., LePage, G. R., Thanassi, J. W., Meisler, N., Nutter, L. M. <strong>Absence of pyridoxine-5-prime-phosphate oxidase (PNPO) activity in neoplastic cells: isolation, characterization, and expression of PNPO cDNA.</strong> Biochemistry 37: 7741-7748, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9601034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9601034</a>] [<a href="https://doi.org/10.1021/bi972983r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9601034">Ngo et al. (1998)</a> isolated a PNPO clone from a rat liver library. They found that the predicted 30-kD protein contained the PNPO signature motif found in the PNPO of S. cerevisiae and bacteria and 5 predicted protein kinase C (see <a href="/entry/176960">176960</a>) phosphorylation sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9601034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Kang, J. H., Hong, M.-L., Kim, D. W., Park, J., Kang, T.-C., Won, M. H., Baek, N.-I., Moon, B. J., Choi, S. Y., Kwon, O.-S. <strong>Genomic organization, tissue distribution and deletion mutation of human pyridoxine 5-prime-phosphate oxidase.</strong> Europ. J. Biochem. 271: 2452-2461, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15182361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15182361</a>] [<a href="https://doi.org/10.1111/j.1432-1033.2004.04175.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15182361">Kang et al. (2004)</a> cloned full-length PNPO from a whole brain cDNA library. The deduced 261-amino acid protein has a calculated molecular mass of 30 kD. Posttranslational modification sites include a sulfation site, 9 phosphorylation sites, 3 N-myristoylation sites, and an RGD cell attachment sequence. PNPO shares 90% amino acid identity with mouse Pnpo. Northern blot analysis detected transcripts of 2.4 and 3.4 kb in all human tissues examined, with the difference in transcript size due to use of alternative polyadenylation sites. Highest expression was in liver, followed by skeletal muscle and kidney. Western blot analysis detected a 30-kD protein in all tissues and cell lines examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15182361" 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>PNPO activity is developmentally regulated in rat liver, being low in fetal liver and high in adult liver. <a href="#4" class="mim-tip-reference" title="Ngo, E. O., LePage, G. R., Thanassi, J. W., Meisler, N., Nutter, L. M. <strong>Absence of pyridoxine-5-prime-phosphate oxidase (PNPO) activity in neoplastic cells: isolation, characterization, and expression of PNPO cDNA.</strong> Biochemistry 37: 7741-7748, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9601034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9601034</a>] [<a href="https://doi.org/10.1021/bi972983r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9601034">Ngo et al. (1998)</a> showed that PNPO expression was similarly developmentally regulated in rat brain. Additionally, <a href="#4" class="mim-tip-reference" title="Ngo, E. O., LePage, G. R., Thanassi, J. W., Meisler, N., Nutter, L. M. <strong>Absence of pyridoxine-5-prime-phosphate oxidase (PNPO) activity in neoplastic cells: isolation, characterization, and expression of PNPO cDNA.</strong> Biochemistry 37: 7741-7748, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9601034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9601034</a>] [<a href="https://doi.org/10.1021/bi972983r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9601034">Ngo et al. (1998)</a> demonstrated that, analogous to rodent hepatomas, PNPO expression in rodent brain tumors was comparable to or lower than that present in fetal rat brain. However, the human neuroblastoma cell lines examined displayed variable PNPO activity; a human hepatocellular carcinoma cell line contained relatively high PNPO activity, comparable to that found in normal human liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9601034" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Kang, J. H., Hong, M.-L., Kim, D. W., Park, J., Kang, T.-C., Won, M. H., Baek, N.-I., Moon, B. J., Choi, S. Y., Kwon, O.-S. <strong>Genomic organization, tissue distribution and deletion mutation of human pyridoxine 5-prime-phosphate oxidase.</strong> Europ. J. Biochem. 271: 2452-2461, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15182361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15182361</a>] [<a href="https://doi.org/10.1111/j.1432-1033.2004.04175.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15182361">Kang et al. (2004)</a> characterized the enzymatic properties of recombinant PNPO following expression in E. coli. PNPO converted both PNP and pyridoxamine 5-prime-phosphate to PLP, and the PLP product was an inhibitor. Mutation analysis indicated that the first N-terminal conserved helix segment and the C-terminal 25 residues were required for enzymatic activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15182361" 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="Kang, J. H., Hong, M.-L., Kim, D. W., Park, J., Kang, T.-C., Won, M. H., Baek, N.-I., Moon, B. J., Choi, S. Y., Kwon, O.-S. <strong>Genomic organization, tissue distribution and deletion mutation of human pyridoxine 5-prime-phosphate oxidase.</strong> Europ. J. Biochem. 271: 2452-2461, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15182361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15182361</a>] [<a href="https://doi.org/10.1111/j.1432-1033.2004.04175.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15182361">Kang et al. (2004)</a> determined that the PNPO gene contains 7 exons and spans 7.7 kb. The promoter region shows characteristics of housekeeping genes, with a CpG island and Sp1 (<a href="/entry/189906">189906</a>)-binding sites, but no TATA-like sequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15182361" 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 genomic sequence analysis, <a href="#2" class="mim-tip-reference" title="Kang, J. H., Hong, M.-L., Kim, D. W., Park, J., Kang, T.-C., Won, M. H., Baek, N.-I., Moon, B. J., Choi, S. Y., Kwon, O.-S. <strong>Genomic organization, tissue distribution and deletion mutation of human pyridoxine 5-prime-phosphate oxidase.</strong> Europ. J. Biochem. 271: 2452-2461, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15182361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15182361</a>] [<a href="https://doi.org/10.1111/j.1432-1033.2004.04175.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15182361">Kang et al. (2004)</a> mapped the PNPO gene to chromosome 17q21.32. They mapped the mouse gene to chromosome 11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15182361" 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 5 patients from 3 families with PNPO deficiency (PNPOD; <a href="/entry/610090">610090</a>), <a href="#3" class="mim-tip-reference" title="Mills, P. B., Surtees, R. A. H., Champion, M. P., Beesley, C. E., Dalton, N., Scambler, P. J., Heales, S. J. R., Briddon, A., Schmeimberg, I., Hoffmann, G. F., Zschocke, J., Clayton, P. T. <strong>Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5-prime-phosphate oxidase.</strong> Hum. Molec. Genet. 14: 1077-1086, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15772097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15772097</a>] [<a href="https://doi.org/10.1093/hmg/ddi120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15772097">Mills et al. (2005)</a> identified homozygous missense, splice site, and stop codon mutations in the PNPO gene. Expression studies in Chinese hamster ovary cells showed that the splice site (IVS3-1G-A; <a href="#0002">603287.0002</a>) and stop codon (X262Q; <a href="#0003">603287.0003</a>) mutations were null activity mutations and that the missense mutation (R229W; <a href="#0001">603287.0001</a>) markedly reduced pyridox(am)ine phosphate oxidase activity. The authors suggested that maintenance of optimal PLP levels in the brain may be important in many neurologic disorders in which neurotransmitter metabolism is disturbed (either as a primary or as a secondary phenomenon). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15772097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 11 patients from 7 unrelated families with PNPOD, <a href="#5" class="mim-tip-reference" title="Plecko, B., Paul, K., Mills, P., Clayton, P., Paschke, E., Maier, O., Hasselmann, O., Schmiedel, G., Kanz, S., Connolly, M., Wolf, N., Struys, E., Stockler, S., Abela, L., Hofer, D. <strong>Pyridoxine responsiveness in novel mutations of the PNPO gene.</strong> Neurology 82: 1425-1433, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24658933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24658933</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000344" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24658933">Plecko et al. (2014)</a> identified 3 different biallelic mutations in the PNPO gene; 6 of the families carried the same homozygous missense mutation (R225H; <a href="#0005">603287.0005</a>). The 6 families derived from the former Yugoslavia. In vitro functional expression studies in CHO cells showed that the R225H mutant protein had no detectable enzyme activity. Most of the patients had a partial or even complete response to pyridoxine treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24658933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated boys with PNPOD, <a href="#7" class="mim-tip-reference" title="Ware, T. L., Earl, J., Salomons, G. S., Struys, E. A., Peters, H. L., Howell, K. B., Pitt, J. J., Freeman, J. L. <strong>Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.</strong> Dev. Med. Child Neurol. 56: 498-502, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24266778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24266778</a>] [<a href="https://doi.org/10.1111/dmcn.12346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24266778">Ware et al. (2014)</a> identified 2 different homozygous missense mutations in the PNPO gene (<a href="#0005">603287.0005</a> and <a href="#0006">603287.0006</a>). Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24266778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs104894629 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894629;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/rs104894629?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=rs104894629" 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=rs104894629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006896 OR RCV003231091" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006896, RCV003231091" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006896...</a>
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<p>In twin boys, the children of consanguineous Turkish parents, with PNPO deficiency (PNPOD; <a href="/entry/610090">610090</a>), <a href="#3" class="mim-tip-reference" title="Mills, P. B., Surtees, R. A. H., Champion, M. P., Beesley, C. E., Dalton, N., Scambler, P. J., Heales, S. J. R., Briddon, A., Schmeimberg, I., Hoffmann, G. F., Zschocke, J., Clayton, P. T. <strong>Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5-prime-phosphate oxidase.</strong> Hum. Molec. Genet. 14: 1077-1086, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15772097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15772097</a>] [<a href="https://doi.org/10.1093/hmg/ddi120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15772097">Mills et al. (2005)</a> detected a homozygous C-to-T transition in exon 7 of the PNPO gene, resulting in a substitution of tryptophan for the conserved arginine-229 residue (R229W). At least 4 and possibly 6 sibs from this family, including the twins, died from the same disorder. <a href="#1" class="mim-tip-reference" title="Brautigam, C., Hyland, K., Wevers, R., Sharma, R., Wagner, L., Stock, G.-J., Heitmann, F., Hoffmann, G. F. <strong>Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.</strong> Neuropediatrics 33: 113-117, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12200739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12200739</a>] [<a href="https://doi.org/10.1055/s-2002-33673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12200739">Brautigam et al. (2002)</a> had described the clinical and laboratory findings in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12200739+15772097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs774710082 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs774710082;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/rs774710082?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=rs774710082" 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=rs774710082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006897" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006897" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006897</a>
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<p>In an infant with PNPO deficiency (PNPOD; <a href="/entry/610090">610090</a>), <a href="#3" class="mim-tip-reference" title="Mills, P. B., Surtees, R. A. H., Champion, M. P., Beesley, C. E., Dalton, N., Scambler, P. J., Heales, S. J. R., Briddon, A., Schmeimberg, I., Hoffmann, G. F., Zschocke, J., Clayton, P. T. <strong>Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5-prime-phosphate oxidase.</strong> Hum. Molec. Genet. 14: 1077-1086, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15772097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15772097</a>] [<a href="https://doi.org/10.1093/hmg/ddi120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15772097">Mills et al. (2005)</a> found a splice mutation in intron 3 (IVS3-1G-A) on 1 allele of the PNPO gene. The missense mutation carried by the other allele was considered to be a polymorphism. The parents were second cousins of East African Asian origin. Patient fibroblast mRNA lacked exon 4, confirming aberrant splicing. This patient was the only one studied by <a href="#3" class="mim-tip-reference" title="Mills, P. B., Surtees, R. A. H., Champion, M. P., Beesley, C. E., Dalton, N., Scambler, P. J., Heales, S. J. R., Briddon, A., Schmeimberg, I., Hoffmann, G. F., Zschocke, J., Clayton, P. T. <strong>Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5-prime-phosphate oxidase.</strong> Hum. Molec. Genet. 14: 1077-1086, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15772097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15772097</a>] [<a href="https://doi.org/10.1093/hmg/ddi120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15772097">Mills et al. (2005)</a> to receive PLP treatment and to survive beyond the neonatal period, but showed persistent central hypotonia and painful dystonic spasms as well as some seizures by the second year of life. He had marked acquired microcephaly and moderate to severe developmental delay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15772097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY</strong>
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PNPO, TER262GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs104894631 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894631;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=rs104894631" 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=rs104894631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006898" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006898" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006898</a>
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<p>In 2 affected sibs from a consanguineous Pakistani family with PNPO deficiency (PNPOD; <a href="/entry/610090">610090</a>), <a href="#3" class="mim-tip-reference" title="Mills, P. B., Surtees, R. A. H., Champion, M. P., Beesley, C. E., Dalton, N., Scambler, P. J., Heales, S. J. R., Briddon, A., Schmeimberg, I., Hoffmann, G. F., Zschocke, J., Clayton, P. T. <strong>Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5-prime-phosphate oxidase.</strong> Hum. Molec. Genet. 14: 1077-1086, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15772097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15772097</a>] [<a href="https://doi.org/10.1093/hmg/ddi120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15772097">Mills et al. (2005)</a> detected a homozygous T-to-C transition in exon 7 of the PNPO gene that resulted in substitution of glutamine for the stop codon at position 262 (X262Q) and the addition of 28 amino acids. Expression studies demonstrated that X262Q PNPO is a null activity mutant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15772097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606958 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606958;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=rs267606958" 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=rs267606958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006899" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006899" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006899</a>
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<p>In a male infant with PNPO deficiency (PNPOD; <a href="/entry/610090">610090</a>), <a href="#6" class="mim-tip-reference" title="Ruiz, A., Garcia-Villoria, J., Ormazabal, A., Zschocke, J., Fiol, M., Navarro-Sastre, A., Artuch, R., Vilaseca, M. A., Ribes, A. <strong>A new fatal case of pyridox(am)ine 5-prime-phosphate oxidase (PNPO) deficiency.</strong> Molec. Genet. Metab. 93: 216-218, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18024216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18024216</a>] [<a href="https://doi.org/10.1016/j.ymgme.2007.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18024216">Ruiz et al. (2008)</a> identified a homozygous 520C-T transition in exon 5 of the PNPO gene, resulting in an ala174-to-ter (A174X) substitution. The patient had severe seizures and myoclonus within the first hours of life and died at age 48 days. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18024216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000208779 OR RCV000414812 OR RCV000825022 OR RCV001090956" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000208779, RCV000414812, RCV000825022, RCV001090956" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000208779...</a>
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<p>In 8 patients from 6 unrelated families with pyridoxamine 5-prime-phosphate oxidase deficiency (PNPOD; <a href="/entry/610090">610090</a>), <a href="#5" class="mim-tip-reference" title="Plecko, B., Paul, K., Mills, P., Clayton, P., Paschke, E., Maier, O., Hasselmann, O., Schmiedel, G., Kanz, S., Connolly, M., Wolf, N., Struys, E., Stockler, S., Abela, L., Hofer, D. <strong>Pyridoxine responsiveness in novel mutations of the PNPO gene.</strong> Neurology 82: 1425-1433, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24658933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24658933</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000344" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24658933">Plecko et al. (2014)</a> identified a homozygous c.674G-A transition (c.674G-A, NM_001182.3) in exon 7 of the PNPO gene, resulting in an arg225-to-his (R225H) substitution at a conserved region in the PLP binding site. The mutation, which segregated with the disorder in the families, was not found in 100 control alleles. In vitro functional expression studies in CHO cells showed that the R225H mutant protein had no detectable enzyme activity. Most of the patients had a partial or even complete response to pyridoxine treatment. The 6 families derived from the former Yugoslavia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24658933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 7-year-old Greek boy with PNPOD, <a href="#7" class="mim-tip-reference" title="Ware, T. L., Earl, J., Salomons, G. S., Struys, E. A., Peters, H. L., Howell, K. B., Pitt, J. J., Freeman, J. L. <strong>Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.</strong> Dev. Med. Child Neurol. 56: 498-502, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24266778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24266778</a>] [<a href="https://doi.org/10.1111/dmcn.12346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24266778">Ware et al. (2014)</a> identified a homozygous R225 substitution in the PNPO gene. Each unaffected parent was heterozygous for the mutation. Functional studies of the variant were not performed. The patient showed an initial response to treatment with pyridoxine, and later showed a sustained therapeutic response to monotherapy with high-dose pyridoxal 5-prime phosphate (PLP). <a href="#7" class="mim-tip-reference" title="Ware, T. L., Earl, J., Salomons, G. S., Struys, E. A., Peters, H. L., Howell, K. B., Pitt, J. J., Freeman, J. L. <strong>Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.</strong> Dev. Med. Child Neurol. 56: 498-502, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24266778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24266778</a>] [<a href="https://doi.org/10.1111/dmcn.12346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24266778">Ware et al. (2014)</a> hypothesized that some degree of pyridoxine 5-prime-phosphate binding was preserved in the mutant protein, resulting in pyridoxine responsiveness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24266778" 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>.0006 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs773450573 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs773450573;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/rs773450573?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=rs773450573" 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=rs773450573" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000188500 OR RCV000208780 OR RCV004539748" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000188500, RCV000208780, RCV004539748" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000188500...</a>
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<p>In a 21-month-old male infant, born of consanguineous Sudanese parents, with pyridoxamine 5-prime-phosphate oxidase deficiency (PNPOD; <a href="/entry/610090">610090</a>), <a href="#7" class="mim-tip-reference" title="Ware, T. L., Earl, J., Salomons, G. S., Struys, E. A., Peters, H. L., Howell, K. B., Pitt, J. J., Freeman, J. L. <strong>Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.</strong> Dev. Med. Child Neurol. 56: 498-502, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24266778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24266778</a>] [<a href="https://doi.org/10.1111/dmcn.12346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24266778">Ware et al. (2014)</a> identified a homozygous c.686G-A transition in the PNPO gene, resulting in an arg229-to-gln (R229Q) substitution. Each unaffected parent was heterozygous for the mutation. Functional studies of the variant were not performed, but a different mutation affecting this same codon has been reported (R229W; <a href="#0001">603287.0001</a>). The patient showed good initial and sustained response to high doses of pyridoxal 5-prime-phosphate treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24266778" 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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Brautigam, C., Hyland, K., Wevers, R., Sharma, R., Wagner, L., Stock, G.-J., Heitmann, F., Hoffmann, G. F.
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<strong>Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.</strong>
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Neuropediatrics 33: 113-117, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12200739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12200739</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12200739" 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/10.1055/s-2002-33673" target="_blank">Full Text</a>]
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Kang, J. H., Hong, M.-L., Kim, D. W., Park, J., Kang, T.-C., Won, M. H., Baek, N.-I., Moon, B. J., Choi, S. Y., Kwon, O.-S.
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<strong>Genomic organization, tissue distribution and deletion mutation of human pyridoxine 5-prime-phosphate oxidase.</strong>
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Europ. J. Biochem. 271: 2452-2461, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15182361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15182361</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15182361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1432-1033.2004.04175.x" target="_blank">Full Text</a>]
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Mills, P. B., Surtees, R. A. H., Champion, M. P., Beesley, C. E., Dalton, N., Scambler, P. J., Heales, S. J. R., Briddon, A., Schmeimberg, I., Hoffmann, G. F., Zschocke, J., Clayton, P. T.
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<strong>Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5-prime-phosphate oxidase.</strong>
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Hum. Molec. Genet. 14: 1077-1086, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15772097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15772097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15772097" 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/ddi120" target="_blank">Full Text</a>]
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Ngo, E. O., LePage, G. R., Thanassi, J. W., Meisler, N., Nutter, L. M.
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<strong>Absence of pyridoxine-5-prime-phosphate oxidase (PNPO) activity in neoplastic cells: isolation, characterization, and expression of PNPO cDNA.</strong>
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Biochemistry 37: 7741-7748, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9601034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9601034</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9601034" 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/10.1021/bi972983r" target="_blank">Full Text</a>]
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Plecko, B., Paul, K., Mills, P., Clayton, P., Paschke, E., Maier, O., Hasselmann, O., Schmiedel, G., Kanz, S., Connolly, M., Wolf, N., Struys, E., Stockler, S., Abela, L., Hofer, D.
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<strong>Pyridoxine responsiveness in novel mutations of the PNPO gene.</strong>
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Neurology 82: 1425-1433, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24658933/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24658933</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24658933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ruiz, A., Garcia-Villoria, J., Ormazabal, A., Zschocke, J., Fiol, M., Navarro-Sastre, A., Artuch, R., Vilaseca, M. A., Ribes, A.
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<strong>A new fatal case of pyridox(am)ine 5-prime-phosphate oxidase (PNPO) deficiency.</strong>
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Molec. Genet. Metab. 93: 216-218, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18024216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18024216</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18024216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ware, T. L., Earl, J., Salomons, G. S., Struys, E. A., Peters, H. L., Howell, K. B., Pitt, J. J., Freeman, J. L.
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<strong>Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.</strong>
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Dev. Med. Child Neurol. 56: 498-502, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24266778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24266778</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24266778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - updated : 3/1/2016
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Cassandra L. Kniffin - updated : 3/3/2008<br>George E. Tiller - updated : 5/8/2006<br>Patricia A. Hartz - updated : 8/16/2004
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Jennifer P. Macke : 11/13/1998
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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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alopez : 03/04/2016<br>alopez : 3/3/2016<br>ckniffin : 3/1/2016<br>wwang : 3/3/2008<br>ckniffin : 3/3/2008<br>alopez : 5/16/2006<br>alopez : 5/9/2006<br>alopez : 5/8/2006<br>alopez : 1/20/2006<br>mgross : 9/8/2004<br>mgross : 9/8/2004<br>terry : 8/16/2004<br>carol : 8/5/2004<br>alopez : 1/11/1999<br>alopez : 11/13/1998
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</span>
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</div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 603287
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE; PNPO
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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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PYRIDOXAMINE-PHOSPHATE OXIDASE<br />
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PYRIDOXAL 5-PRIME-PHOSPHATE SYNTHASE
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</span>
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</h4>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PNPO</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 724576005;
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</span>
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</p>
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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: 17q21.32
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:47,941,571-47,949,308 </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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17q21.32
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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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Pyridoxamine 5'-phosphate oxidase deficiency
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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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610090
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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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<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>Vitamin B6, or pyridoxal 5-prime-phosphate (PLP), is critical for normal cellular function, and some cancer cells have notable differences in vitamin B6 metabolism compared to their normal counterparts. The rate-limiting enzyme in vitamin B6 synthesis is pyridoxine 5-prime-phosphate (PNP) oxidase (PNPO; EC 1.4.3.5).</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>Ngo et al. (1998) isolated a PNPO clone from a rat liver library. They found that the predicted 30-kD protein contained the PNPO signature motif found in the PNPO of S. cerevisiae and bacteria and 5 predicted protein kinase C (see 176960) phosphorylation sites. </p><p>Kang et al. (2004) cloned full-length PNPO from a whole brain cDNA library. The deduced 261-amino acid protein has a calculated molecular mass of 30 kD. Posttranslational modification sites include a sulfation site, 9 phosphorylation sites, 3 N-myristoylation sites, and an RGD cell attachment sequence. PNPO shares 90% amino acid identity with mouse Pnpo. Northern blot analysis detected transcripts of 2.4 and 3.4 kb in all human tissues examined, with the difference in transcript size due to use of alternative polyadenylation sites. Highest expression was in liver, followed by skeletal muscle and kidney. Western blot analysis detected a 30-kD protein in all tissues and cell lines examined. </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>PNPO activity is developmentally regulated in rat liver, being low in fetal liver and high in adult liver. Ngo et al. (1998) showed that PNPO expression was similarly developmentally regulated in rat brain. Additionally, Ngo et al. (1998) demonstrated that, analogous to rodent hepatomas, PNPO expression in rodent brain tumors was comparable to or lower than that present in fetal rat brain. However, the human neuroblastoma cell lines examined displayed variable PNPO activity; a human hepatocellular carcinoma cell line contained relatively high PNPO activity, comparable to that found in normal human liver. </p><p>Kang et al. (2004) characterized the enzymatic properties of recombinant PNPO following expression in E. coli. PNPO converted both PNP and pyridoxamine 5-prime-phosphate to PLP, and the PLP product was an inhibitor. Mutation analysis indicated that the first N-terminal conserved helix segment and the C-terminal 25 residues were required for enzymatic activity. </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>Kang et al. (2004) determined that the PNPO gene contains 7 exons and spans 7.7 kb. The promoter region shows characteristics of housekeeping genes, with a CpG island and Sp1 (189906)-binding sites, but no TATA-like sequences. </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 genomic sequence analysis, Kang et al. (2004) mapped the PNPO gene to chromosome 17q21.32. They mapped the mouse gene to chromosome 11. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 5 patients from 3 families with PNPO deficiency (PNPOD; 610090), Mills et al. (2005) identified homozygous missense, splice site, and stop codon mutations in the PNPO gene. Expression studies in Chinese hamster ovary cells showed that the splice site (IVS3-1G-A; 603287.0002) and stop codon (X262Q; 603287.0003) mutations were null activity mutations and that the missense mutation (R229W; 603287.0001) markedly reduced pyridox(am)ine phosphate oxidase activity. The authors suggested that maintenance of optimal PLP levels in the brain may be important in many neurologic disorders in which neurotransmitter metabolism is disturbed (either as a primary or as a secondary phenomenon). </p><p>In 11 patients from 7 unrelated families with PNPOD, Plecko et al. (2014) identified 3 different biallelic mutations in the PNPO gene; 6 of the families carried the same homozygous missense mutation (R225H; 603287.0005). The 6 families derived from the former Yugoslavia. In vitro functional expression studies in CHO cells showed that the R225H mutant protein had no detectable enzyme activity. Most of the patients had a partial or even complete response to pyridoxine treatment. </p><p>In 2 unrelated boys with PNPOD, Ware et al. (2014) identified 2 different homozygous missense mutations in the PNPO gene (603287.0005 and 603287.0006). Functional studies of the variants were not performed. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<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>
|
|
<strong>6 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 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY</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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PNPO, ARG229TRP
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<br />
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|
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SNP: rs104894629,
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gnomAD: rs104894629,
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ClinVar: RCV000006896, RCV003231091
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In twin boys, the children of consanguineous Turkish parents, with PNPO deficiency (PNPOD; 610090), Mills et al. (2005) detected a homozygous C-to-T transition in exon 7 of the PNPO gene, resulting in a substitution of tryptophan for the conserved arginine-229 residue (R229W). At least 4 and possibly 6 sibs from this family, including the twins, died from the same disorder. Brautigam et al. (2002) had described the clinical and laboratory findings in these patients. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0002 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY</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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PNPO, IVS3, G-A, -1
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<br />
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SNP: rs774710082,
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gnomAD: rs774710082,
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ClinVar: RCV000006897
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an infant with PNPO deficiency (PNPOD; 610090), Mills et al. (2005) found a splice mutation in intron 3 (IVS3-1G-A) on 1 allele of the PNPO gene. The missense mutation carried by the other allele was considered to be a polymorphism. The parents were second cousins of East African Asian origin. Patient fibroblast mRNA lacked exon 4, confirming aberrant splicing. This patient was the only one studied by Mills et al. (2005) to receive PLP treatment and to survive beyond the neonatal period, but showed persistent central hypotonia and painful dystonic spasms as well as some seizures by the second year of life. He had marked acquired microcephaly and moderate to severe developmental delay. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY</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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PNPO, TER262GLN
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<br />
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SNP: rs104894631,
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ClinVar: RCV000006898
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 affected sibs from a consanguineous Pakistani family with PNPO deficiency (PNPOD; 610090), Mills et al. (2005) detected a homozygous T-to-C transition in exon 7 of the PNPO gene that resulted in substitution of glutamine for the stop codon at position 262 (X262Q) and the addition of 28 amino acids. Expression studies demonstrated that X262Q PNPO is a null activity mutant. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY</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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PNPO, ALA174TER
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<br />
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SNP: rs267606958,
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ClinVar: RCV000006899
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a male infant with PNPO deficiency (PNPOD; 610090), Ruiz et al. (2008) identified a homozygous 520C-T transition in exon 5 of the PNPO gene, resulting in an ala174-to-ter (A174X) substitution. The patient had severe seizures and myoclonus within the first hours of life and died at age 48 days. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY</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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PNPO, ARG225HIS
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<br />
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ClinVar: RCV000208779, RCV000414812, RCV000825022, RCV001090956
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 8 patients from 6 unrelated families with pyridoxamine 5-prime-phosphate oxidase deficiency (PNPOD; 610090), Plecko et al. (2014) identified a homozygous c.674G-A transition (c.674G-A, NM_001182.3) in exon 7 of the PNPO gene, resulting in an arg225-to-his (R225H) substitution at a conserved region in the PLP binding site. The mutation, which segregated with the disorder in the families, was not found in 100 control alleles. In vitro functional expression studies in CHO cells showed that the R225H mutant protein had no detectable enzyme activity. Most of the patients had a partial or even complete response to pyridoxine treatment. The 6 families derived from the former Yugoslavia. </p><p>In a 7-year-old Greek boy with PNPOD, Ware et al. (2014) identified a homozygous R225 substitution in the PNPO gene. Each unaffected parent was heterozygous for the mutation. Functional studies of the variant were not performed. The patient showed an initial response to treatment with pyridoxine, and later showed a sustained therapeutic response to monotherapy with high-dose pyridoxal 5-prime phosphate (PLP). Ware et al. (2014) hypothesized that some degree of pyridoxine 5-prime-phosphate binding was preserved in the mutant protein, resulting in pyridoxine responsiveness. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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PNPO, ARG229GLN
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<br />
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SNP: rs773450573,
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gnomAD: rs773450573,
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ClinVar: RCV000188500, RCV000208780, RCV004539748
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<p>In a 21-month-old male infant, born of consanguineous Sudanese parents, with pyridoxamine 5-prime-phosphate oxidase deficiency (PNPOD; 610090), Ware et al. (2014) identified a homozygous c.686G-A transition in the PNPO gene, resulting in an arg229-to-gln (R229Q) substitution. Each unaffected parent was heterozygous for the mutation. Functional studies of the variant were not performed, but a different mutation affecting this same codon has been reported (R229W; 603287.0001). The patient showed good initial and sustained response to high doses of pyridoxal 5-prime-phosphate treatment. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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Brautigam, C., Hyland, K., Wevers, R., Sharma, R., Wagner, L., Stock, G.-J., Heitmann, F., Hoffmann, G. F.
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<strong>Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.</strong>
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Neuropediatrics 33: 113-117, 2002.
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[PubMed: 12200739]
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[Full Text: https://doi.org/10.1055/s-2002-33673]
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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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Kang, J. H., Hong, M.-L., Kim, D. W., Park, J., Kang, T.-C., Won, M. H., Baek, N.-I., Moon, B. J., Choi, S. Y., Kwon, O.-S.
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<strong>Genomic organization, tissue distribution and deletion mutation of human pyridoxine 5-prime-phosphate oxidase.</strong>
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Europ. J. Biochem. 271: 2452-2461, 2004.
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[PubMed: 15182361]
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[Full Text: https://doi.org/10.1111/j.1432-1033.2004.04175.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mills, P. B., Surtees, R. A. H., Champion, M. P., Beesley, C. E., Dalton, N., Scambler, P. J., Heales, S. J. R., Briddon, A., Schmeimberg, I., Hoffmann, G. F., Zschocke, J., Clayton, P. T.
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<strong>Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5-prime-phosphate oxidase.</strong>
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Hum. Molec. Genet. 14: 1077-1086, 2005.
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[PubMed: 15772097]
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[Full Text: https://doi.org/10.1093/hmg/ddi120]
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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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Ngo, E. O., LePage, G. R., Thanassi, J. W., Meisler, N., Nutter, L. M.
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<strong>Absence of pyridoxine-5-prime-phosphate oxidase (PNPO) activity in neoplastic cells: isolation, characterization, and expression of PNPO cDNA.</strong>
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Biochemistry 37: 7741-7748, 1998.
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[PubMed: 9601034]
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[Full Text: https://doi.org/10.1021/bi972983r]
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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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Plecko, B., Paul, K., Mills, P., Clayton, P., Paschke, E., Maier, O., Hasselmann, O., Schmiedel, G., Kanz, S., Connolly, M., Wolf, N., Struys, E., Stockler, S., Abela, L., Hofer, D.
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<strong>Pyridoxine responsiveness in novel mutations of the PNPO gene.</strong>
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Neurology 82: 1425-1433, 2014.
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[PubMed: 24658933]
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[Full Text: https://doi.org/10.1212/WNL.0000000000000344]
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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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Ruiz, A., Garcia-Villoria, J., Ormazabal, A., Zschocke, J., Fiol, M., Navarro-Sastre, A., Artuch, R., Vilaseca, M. A., Ribes, A.
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<strong>A new fatal case of pyridox(am)ine 5-prime-phosphate oxidase (PNPO) deficiency.</strong>
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Molec. Genet. Metab. 93: 216-218, 2008.
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[PubMed: 18024216]
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[Full Text: https://doi.org/10.1016/j.ymgme.2007.10.003]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ware, T. L., Earl, J., Salomons, G. S., Struys, E. A., Peters, H. L., Howell, K. B., Pitt, J. J., Freeman, J. L.
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<strong>Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.</strong>
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Dev. Med. Child Neurol. 56: 498-502, 2014.
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[PubMed: 24266778]
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[Full Text: https://doi.org/10.1111/dmcn.12346]
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</p>
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</li>
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</ol>
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<br />
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</div>
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 3/1/2016<br>Cassandra L. Kniffin - updated : 3/3/2008<br>George E. Tiller - updated : 5/8/2006<br>Patricia A. Hartz - updated : 8/16/2004
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</span>
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Creation Date:
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<span class="mim-text-font">
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Jennifer P. Macke : 11/13/1998
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