Western blot analysis of QDPR over-expressed 293 cell line, cotransfected with QDPR Validated Chimera RNAi ( Cat # H00005860-R01V ) (Lane 2) or non-transfected control (Lane 1). Blot probed with QDPR monoclonal antibody (M02), clone M1 (Cat # H00005860-M02 ). GAPDH ( 36.1 kDa ) used as specificity and loading control.
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
6,7-dihydropteridine reductase,short chain dehydrogenase/reductase family 33C, member 1