ID:DHPR_HUMAN DESCRIPTION: RecName: Full=Dihydropteridine reductase; EC=1.5.1.34; AltName: Full=HDHPR; AltName: Full=Quinoid dihydropteridine reductase; FUNCTION: The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases. CATALYTIC ACTIVITY: A 5,6,7,8-tetrahydropteridine + NAD(P)(+) = a 6,7-dihydropteridine + NAD(P)H. SUBUNIT: Homodimer. DISEASE: Defects in QDPR are the cause of BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]; also called dihydropteridine reductase deficiency (DHPR deficiency) or hyperphenylalaninemia tetrahydrobiopterin-deficient due to DHPR deficiency or quinoid dihydropteridine reductase deficiency (QDPR deficiency). HPABH4C is a rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly. These signs are attributable to depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and tyrosine hydroxylases that use BH-4 as cofactor. These patients do not respond to phenylalanine- restricted diet. HPABH4C is lethal if untreated. SIMILARITY: Belongs to the short-chain dehydrogenases/reductases (SDR) family. WEB RESOURCE: Name=BIOMDB; Note=Db of mutations causing tetrahydrobiopterin deficiencies; URL="http://www.bh4.org/biodef1.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/QDPR";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P09417
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001889 liver development GO:0006520 cellular amino acid metabolic process GO:0006559 L-phenylalanine catabolic process GO:0006729 tetrahydrobiopterin biosynthetic process GO:0010044 response to aluminum ion GO:0010288 response to lead ion GO:0022900 electron transport chain GO:0033762 response to glucagon GO:0035690 cellular response to drug GO:0051066 dihydrobiopterin metabolic process GO:0055114 oxidation-reduction process
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
