🧬 基因注释:PROC
📝 官方信息
官方名称:protein C, inactivator of coagulation factors Va and VIIIa
功能摘要:This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009].
🎯 作为靶基因的剪接因子
- CSTF2T 置信度: 2.0
- 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
- RBFOX2 置信度: 2.0
- AQR 置信度: 1.0
- HNRNPUL1 置信度: 1.0
- MATR3 置信度: 1.0
- PABPN1 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF4 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbm5 置信度: 1.0
- SAFB 置信度: 1.0
- SF3A3 置信度: 1.0
- SMNDC1 置信度: 1.0
- SRSF9 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录