凝血因子ⅩⅢ基因突变与疾病的关系研究进展

Reaserch Development of Relationship between Gene Mutation of Coagulation Factor ⅩⅢ and Diseases

凝血因子ⅩⅢ(FⅩⅢ)是凝血过程中最后一步关键酶。有活性的凝血因子Xa能催化可溶性纤维蛋白交联,形成不溶性纤维蛋白多聚体,从而稳定纤维蛋白凝块,使血凝块不易被纤溶酶降解。FX结构与功能有着密切的关系,FⅩⅢ基因突变可影响其结构,导致功能的改变,与疾病的发生密切相关。就FⅩⅢ结构、基因突变及其功能与疾病的关系进行综述。

Coagulation Factor ⅩⅢ （FⅩⅢ） is the key enzyme in the final phase of blood clotting. Activated Coagulation factor ⅩⅢ can catalyze soluble fibrin crosslink into insoluble fibrin polymer,which could stabilize the fibrin clot, and make blood clot not to be degradated easily by fibrinolysin. The structure of F is closely related to its function. The gene mutation of FⅩⅢ can result in changes in function by changing its structure, which has close relationship with disease genesis. This article reviews F ⅩⅢ about its its structure, function, gene mutation, function and its relationshio with diseases.