🧬 基因注释：F5
📝 官方信息
官方名称：coagulation factor V
功能摘要：This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008].
🎯 作为靶基因的剪接因子
- HNRNPA1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPM 置信度: 2.0
- HNRNPU 置信度: 2.0
- KHSRP 置信度: 2.0
- AQR 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF4 置信度: 1.0
- PRPF8 置信度: 1.0
- Ptbp2 置信度: 1.0
- SAFB 置信度: 1.0
- SF3A3 置信度: 1.0
- SRSF9 置信度: 1.0
- Srsf1 置信度: 1.0
- Srsf7 置信度: 1.0
- TIA1 置信度: 1.0
- Tra2a 置信度: 1.0
- U2af1 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录