Gene: [04p153/QDPR] quinoid dihydropteridine reductase; phenylketonuria II, atypical (QDPR/DHPR deficiency);
FUN | Catalyzes reaction: NADPH + 6,7-dihydropteridine = NADP+ + 5,6,7,8-tetrahydropteridine. The substrate is the quinoid form of dihydropteridine which is used as a cofactor in phenylalanine hydroxylation." |
FAG | In a functional aspect, quinoid dihydropteridine reductase belongs to the phenylalanine hydroxylase system; on the composition of this system, see GEM:12q241/PAH." |
REF | LOC,MOL "Brown RM,
Dahl: Genomics, 1, 67-70, 1987 POL,PND,PAT "Dahl HH &: J Med Genet, 25, 25-28, 1988 CLO,SEQ,EXP,POL "Dahl HH &: NAR, 15, 1921-1932, 1987 LOC,MAP "Kuhl P &: Hum Genet, 53, 47-49, 1979 CLO,SEQ,EXP,POL "Lockyer J &: PNAS, 84, N10, 3329-3333, 1987 LOC,MOL "MacDonald ME &: Somat Cell Mol Genet, 13, N5, 569-574, 1987 |
SWI | SWISSPROT: P09417 |
KEY | neu, mtbd, aac, vit |
CLA | coding, basic |
LOC | 04 p15.3 |
MIM | MIM: 261630 |
EZN | ENZYME: 1.6.99.7 |
