NP_077198.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
25,570 Da
NCBI Official Full Name
dihydropteridine reductase
NCBI Official Synonym Full Names
quinoid dihydropteridine reductase
NCBI Official Synonym Symbols
Dhpr; PKU2; D5Ertd371e; 2610008L04Rik [Similar Products]
NCBI Protein Information
dihydropteridine reductase
UniProt Protein Name
Dihydropteridine reductase
UniProt Synonym Protein Names
HDHPR; Quinoid dihydropteridine reductase
UniProt Synonym Gene Names
UniProt Entry Name
DHPR_MOUSE
UniProt Comments for Qdpr
QDPR: The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases. Defects in QDPR are the cause of BH4-deficient hyperphenylalaninemia type C (HPABH4C); 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. Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Protein type: EC 1.5.1.34; Oxidoreductase; Cofactor and Vitamin Metabolism - folate biosynthesis
Cellular Component: cytoplasm; cytosol; mitochondrion; neuron projection
Molecular Function: 6,7-dihydropteridine reductase activity; oxidoreductase activity; protein homodimerization activity
Biological Process: metabolic process; tetrahydrobiopterin biosynthetic process
Research Articles on Qdpr
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