🧬 基因注释：THBD
📝 官方信息
官方名称：thrombomodulin
功能摘要：The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
🏥 关联疾病
该基因暂无关联疾病记录