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Sequence of this protein is as follows: MAAAAAAGEA RRVLVYGGRG ALGSRCVQAF RARNWWVASV DVVENEEASA SIIVKMTDSF TEQADQVTAE VGKLLGEEKV DAILCVAGGW AGGNAKSKSL FKNCDLMWKQ SIWTSTISSH LATKHLKEGG LLTLAGAKAA LDGTPGMIGY GMAKGAVHQL CQSLAGKNSG MPPGAAAIAV LPVTLDTPMN RKSMPEADFS SWTPLEFLVE TFHDWITGKN RPSSGSLIQV VTTEGRTELT PAYF
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 6,7-dihydropteridine reductase; Dihydropteridine reductase; HDHPR; HPR; Quinoid dihydropteridine reductase; Short chain dehydrogenase/reductase family 33C member 1; short chain dehydrogenase/reductase family 33C, member 1; testis secretory sperm-binding protein Li 236P
基因别名: DHPR; PKU2; QDPR; SDR33C1
UniProt ID: (Human) P09417
Entrez Gene ID: (Human) 5860