🧬 基因注释：BDH1
📝 官方信息
官方名称：3-hydroxybutyrate dehydrogenase 1
功能摘要：This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- CSTF2T 置信度: 2.0
- HNRNPA1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPU 置信度: 2.0
- MBNL1 置信度: 2.0
- NOVA1 置信度: 2.0
- RBFOX2 置信度: 2.0
- AQR 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
- Rbmx 置信度: 1.0
- SAFB 置信度: 1.0
- SRSF9 置信度: 1.0
- Srsf1 置信度: 1.0
- Tardbp 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录