" /> QDPR wt Allele - CISMeF





Preferred Label : QDPR wt Allele;

NCIt synonyms : Short Chain Dehydrogenase/Reductase Family 33C, Member 1 Gene; HDHPR; SDR33C1; PKU2; DHPR; Quinoid Dihydropteridine Reductase wt Allele;

NCIt definition : Human QDPR wild-type allele is located in the vicinity of 4p15.32 and is approximately 52 kb in length. This allele, which encodes dihydropteridine reductase protein, is involved in the NADH-mediated reduction of quinonoid dihydrobiopterin yielding tetrahydrobiopterin. Mutations in the gene are associated with BH4-deficient hyperphenylalaninemia C.;

NCI Metathesaurus CUI : CL1927376;

GenBank Accession Number : AB053170;

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01/06/2025


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