🧬 基因注释：QDPR
📝 官方信息
官方名称：quinoid dihydropteridine reductase
功能摘要：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, Jul 2008].
🎯 作为靶基因的剪接因子
- CELF2 置信度: 2.0
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- GRSF1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPD 置信度: 2.0
- HNRNPH1 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPM 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- AQR 置信度: 1.0
- CPSF1 置信度: 1.0
- CPSF2 置信度: 1.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- MBNL2 置信度: 1.0
- Mbnl2 置信度: 1.0
- PCBP2 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录