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Antibody staining mainly not consistent with RNA expression data. Pending external verification. Presumed off target binding observed and disregarded. External characterization data supports antibody staining.
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]
Enzymes ENZYME proteins Oxidoreductases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Oxidoreductases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014)