Gene information for QDPR (Homo sapiens)
(Information is obtained from NCBI Gene database)
| Entrez gene ID | 5860 |
| Official gene symbol | QDPR |
| Full name | quinoid dihydropteridine reductase |
| Aliases | ,DHPR,FLJ42391,PKU2,SDR33C1, |
| Gene summary | 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] |
| Location | Chromosome: 4 Locus: |
| Gene position | 17513857 - 17488016 Map Viewer |
| OMIM ID | 612676 |
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