靶标:
QDPR
产品别名:
DHPR; HDHPR; PKU2; SDR33C1; QDPR; quinoid dihydropteridine reductase; quinoid dihydropteridine reductase; dihydropteridine reductase; 6,7-dihydropteridine reductase; short chain dehydrogenase/reductase family 33C member 1; testis secretory sperm-binding protein Li 236P; QDPR蛋白; 醌型二氢蝶啶还原酶(QDPR);
背景信息:
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.