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Gene Review

QDPR  -  quinoid dihydropteridine reductase

Homo sapiens

Synonyms: DHPR, Dihydropteridine reductase, HDHPR, PKU2, Quinoid dihydropteridine reductase, ...
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Disease relevance of QDPR


Psychiatry related information on QDPR


High impact information on QDPR


Chemical compound and disease context of QDPR


Biological context of QDPR

  • To identify the disease causing molecular defects, we developed a sensitive screening method that rapidly scans the entire open reading frame and all splice sites of the QDPR gene [16].
  • Linkage analyses using recombinant inbred strains, a standard outcross, and an interspecific backcross were used to assign homologs for five human loci, D4S43, D4S62, QDPR, D4S76, and D4S80, to chromosome 5 and to determine their relationships with previously mapped markers for this autosome [17].
  • This observation supports the assignment of a structural gene for QDPR to human chromosome 4 [18].
  • The method is useful for rapid and simultaneous scanning of all exons and flanking intronic sequences of the QDPR gene [19].
  • The QDPR probe revealed a restriction fragment length polymorphism with the enzyme BanII, permitting determination of its genetic proximity to D4S10, an anonymous DNA marker tightly linked to HD [5].

Anatomical context of QDPR


Associations of QDPR with chemical compounds


Other interactions of QDPR


Analytical, diagnostic and therapeutic context of QDPR


  1. Phenylketonuria due to a deficiency of dihydropteridine reductase. Kaufman, S., Holtzman, N.A., Milstien, S., Butler, L.J., Krumholz, A. N. Engl. J. Med. (1975) [Pubmed]
  2. The crystallographic structure of a human dihydropteridine reductase NADH binary complex expressed in Escherichia coli by a cDNA constructed from its rat homologue. Su, Y., Varughese, K.I., Xuong, N.H., Bray, T.L., Roche, D.J., Whiteley, J.M. J. Biol. Chem. (1993) [Pubmed]
  3. Catalytic characterization of 4a-hydroxytetrahydropterin dehydratase. Rebrin, I., Bailey, S.W., Boerth, S.R., Ardell, M.D., Ayling, J.E. Biochemistry (1995) [Pubmed]
  4. Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Jurkat-Rott, K., Mitrovic, N., Hang, C., Kouzmekine, A., Iaizzo, P., Herzog, J., Lerche, H., Nicole, S., Vale-Santos, J., Chauveau, D., Fontaine, B., Lehmann-Horn, F. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  5. Physical and genetic localization of quinonoid dihydropteridine reductase gene (QDPR) on short arm of chromosome 4. MacDonald, M.E., Anderson, M.A., Lockyer, J.L., Milstien, S., Hobbs, W.J., Faryniarz, A.G., Kaufman, S., Ledley, F.D., Woo, S.L., Gusella, J.F. Somat. Cell Mol. Genet. (1987) [Pubmed]
  6. Disturbance of cerebral function by aluminium in haemodialysis patients without overt aluminium toxicity. Altmann, P., Dhanesha, U., Hamon, C., Cunningham, J., Blair, J., Marsh, F. Lancet (1989) [Pubmed]
  7. Tetrahydrobiopterin metabolism in the temporal lobe of patients dying with senile dementia of Alzheimer type. Barford, P.A., Blair, J.A., Eggar, C., Hamon, C., Morar, C., Whitburn, S.B. J. Neurol. Neurosurg. Psychiatr. (1984) [Pubmed]
  8. Folinic acid therapy in treatment of dihydropteridine reductase deficiency. Irons, M., Levy, H.L., O'Flynn, M.E., Stack, C.V., Langlais, P.J., Butler, I.J., Milstien, S., Kaufman, S. J. Pediatr. (1987) [Pubmed]
  9. Serum aluminum levels and erythrocyte dihydropteridine reductase activity in patients on hemodialysis. Altmann, P., Al-Salihi, F., Butter, K., Cutler, P., Blair, J., Leeming, R., Cunningham, J., Marsh, F. N. Engl. J. Med. (1987) [Pubmed]
  10. Atypical phenylketonuria with normal dihydropteridine reductase activity. Rey, F., Blandin-Savoja, F., Rey, J. N. Engl. J. Med. (1976) [Pubmed]
  11. Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test. Ponzone, A., Guardamagna, O., Spada, M., Ferraris, S., Ponzone, R., Kierat, L., Blau, N. Eur. J. Pediatr. (1993) [Pubmed]
  12. Phenylalanine has no effect on dihydropteridine reductase activity in phenylketonuria fibroblasts. Guttler, F., Kaufman, S., Milstien, S. Lancet (1977) [Pubmed]
  13. Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency. Niederwieser, A., Curtius, H.C., Bettoni, O., Bieri, J., Schircks, B., Viscontini, M., Schaub, J. Lancet (1979) [Pubmed]
  14. Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency. Goldstein, D.S., Hahn, S.H., Holmes, C., Tifft, C., Harvey-White, J., Milstien, S., Kaufman, S. J. Neurochem. (1995) [Pubmed]
  15. Studies on dihydropteridine reductase activity in pheochromocytoma cells. Liang, B.T., Vaccaro, K.K., Perelle, B.A., Perlman, R.L. J. Neurochem. (1981) [Pubmed]
  16. Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). Romstad, A., Kalkanoğlu, H.S., Coşkun, T., Demirkol, M., Tokatli, A., Dursun, A., Baykal, T., Ozalp, I., Guldberg, P., Güttler, F. Hum. Genet. (2000) [Pubmed]
  17. Synteny on mouse chromosome 5 of homologs for human DNA loci linked to the Huntington disease gene. Cheng, S.V., Martin, G.R., Nadeau, J.H., Haines, J.L., Bucan, M., Kozak, C.A., MacDonald, M.E., Lockyer, J.L., Ledley, F.D., Woo, S.L. Genomics (1989) [Pubmed]
  18. Assignment of a gene for human quinoid-dihydropteridine reductase (QDPR, EC to chromosome 4. Kuhl, P., Olek, K., Wardenbach, P., Grzeschik, K.H. Hum. Genet. (1979) [Pubmed]
  19. Evaluation of a fetus at risk for dihydropteridine reductase deficiency by direct mutation analysis using denaturing gradient gel electrophoresis. Kalkanoglu, H.S., Romstad, A., Coşkun, T., Güttler, F. Prenat. Diagn. (2001) [Pubmed]
  20. Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. Bonafé, L., Thöny, B., Leimbacher, W., Kierat, L., Blau, N. Clin. Chem. (2001) [Pubmed]
  21. Structure and expression of human dihydropteridine reductase. Lockyer, J., Cook, R.G., Milstien, S., Kaufman, S., Woo, S.L., Ledley, F.D. Proc. Natl. Acad. Sci. U.S.A. (1987) [Pubmed]
  22. Inhibition of dihydropteridine reductase from human liver and rat striatal synaptosomes by apomorphine and its analogs. Shen, R.S., Smith, R.V., Davis, P.J., Abell, C.W. J. Biol. Chem. (1984) [Pubmed]
  23. Molecular and immunological comparison of human dihydropteridine reductase in liver, cultured fibroblasts and continuous lymphoid cells. Firgaira, F.A., Choo, K.H., Cotton, R.G., Danks, D.M. Biochem. J. (1981) [Pubmed]
  24. Disorders of tetrahydrobiopterin metabolism and their treatment. Shintaku, H. Curr. Drug Metab. (2002) [Pubmed]
  25. Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia. Waters, P.J., Scriver, C.R., Parniak, M.A. Mol. Genet. Metab. (2001) [Pubmed]
  26. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Thöny, B., Blau, N. Hum. Mutat. (2006) [Pubmed]
  27. Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region. Jabs, E.W., Coss, C.A., Hayflick, S.J., Whitmore, T.E., Pauli, R.M., Kirkpatrick, S.J., Meyers, D.A., Goldberg, R., Day, D.W., Rosenbaum, K.N. Genomics (1991) [Pubmed]
  28. Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency. Dahl, H.H., Hutchison, W., McAdam, W., Wake, S., Morgan, F.J., Cotton, R.G. Nucleic Acids Res. (1987) [Pubmed]
  29. A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online. Smooker, P.M., Gough, T.J., Cotton, R.G., Alliaudi, C., de Sanctis, L., Dianzani, I. Hum. Mutat. (1999) [Pubmed]
  30. Localization of the human dihydropteridine reductase gene to band p15.3 of chromosome 4 by in situ hybridization. Brown, R.M., Dahl, H.H. Genomics (1987) [Pubmed]
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