F5基因详情

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]

[中文简述(自动翻译):]该基因编码的血液凝固级联的必要辅助因子。这个因素中循环血浆和被凝血酶凝固过程中由活化肽的释放转化为活性形式。这产生的重链和由钙离子保持在一起的轻链。活化的蛋白是与活化的凝血因子X参与激活凝血酶原向凝血酶的辅助因子。缺陷在该基因的结果在任一种常染色体隐性出血素质或血栓形成的常染色体显性形式，这被称为活化蛋白C抵抗。 [由RefSeq的，2008年10月提供]