🧬 基因注释：PNPO
📝 官方信息
官方名称：pyridoxamine 5'-phosphate oxidase
功能摘要：The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008].
🎯 作为靶基因的剪接因子
- CELF2 置信度: 2.0
- CPSF4 置信度: 2.0
- CPSF6 置信度: 2.0
- CSTF2T 置信度: 2.0
- EWSR1 置信度: 2.0
- GRSF1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPH1 置信度: 2.0
- HNRNPK 置信度: 2.0
- MBNL1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM15 置信度: 2.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF4 置信度: 1.0
- PRPF8 置信度: 1.0
- QKI 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录