NP_000311.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
dihydropteridine reductase isoform 1
NCBI Official Synonym Full Names
quinoid dihydropteridine reductase
NCBI Protein Information
dihydropteridine reductase
UniProt Protein Name
Dihydropteridine reductase
UniProt Synonym Protein Names
HDHPR; Quinoid dihydropteridine reductase; Short chain dehydrogenase/reductase family 33C member 1
UniProt Synonym Gene Names
UniProt Entry Name
DHPR_HUMAN
NCBI Summary for QDPR
This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]
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; Cofactor and Vitamin Metabolism - folate biosynthesis; Oxidoreductase
Chromosomal Location of Human Ortholog: 4p15.31
Cellular Component: neuron projection; mitochondrion; cytoplasm; cytosol
Molecular Function: protein homodimerization activity; electron carrier activity; 6,7-dihydropteridine reductase activity
Biological Process: amino acid metabolic process; tetrahydrobiopterin biosynthetic process; L-phenylalanine catabolic process; response to glucagon stimulus; dihydrobiopterin metabolic process; response to lead ion; liver development; response to aluminum ion
Disease: Hyperphenylalaninemia, Bh4-deficient, C
Product References and Citations for anti-QDPR antibody
Schnetz-Boutaud,N.C., et.al.,Genes Brain Behav. 8 (8), 753-757 (2009)
Research Articles on QDPR
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Products associated with anti-QDPR antibody
Pathways associated with anti-QDPR antibody
Diseases associated with anti-QDPR antibody
Organs/Tissues associated with anti-QDPR antibody
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