FXIIa
中文名称
通路描述
FXIIa 通过激活凝血途径促进纤维蛋白原形成，将 FXI 转化为 FXIa（Cheng Q 等，2010），而血浆激肽释放酶直接结合并激活 FIX（Kearney KJ 等，2021），从而促进凝血与炎症之间的交叉对话。尽管 FXII 和血浆激肽释放酶对正常止血途径并非必需，因为 FXII 或前激肽释放酶缺乏的个体并不表现出出血性疾病（Kokoye Y 等，2016），但使用动物疾病模型的研究表明，这些因素可能在病理条件下促进血栓形成（Revenko AS 等，2011; Matafonov A 等，2014; 综述 Schmaier A, 2016）。FXII、前激肽释放酶（PK）、高分子量激肽原（HK）和缓激素 B2 受体的缺乏与小鼠动脉和静脉血栓形成模型中凝血酶生成时间延长相关（Pauer HU 等，2004; Stavrou EV 等，2015; Merkulov S 等，2008; Shariat-Madar Z 等，2006; Fang C 等，2013）。另一方面，FXI 缺失小鼠表现出出血表型，而脯氨酸羧肽酶 -1 和 C1 抑制剂缺乏小鼠则表现出促血栓表型（Gailani D 等，Adams GA 等，2011; Grover S 等，2023）。大规模人群研究表明，FXII 缺乏症可预防静脉血栓形成，而 C1 抑制剂缺乏症与增加血栓风险相关（Haj AK 等，2025; Rodriguez Espada A 等，2026）。
英文描述
FXIIa, PKa-dependent activation of coagulation pathway Activated factor FXII (FXIIa) promotes fibrin clot formation by converting FXI to FXIa (Cheng Q et al., 2010), while plasma kallikrein directly binds and activates FIX (Kearney KJ et al., 2021), thereby facilitating crosstalk between coagulation and inflammation. Despite this, both FXII and plasma kallikrein are non-essential for normal hemostatic pathway, as individuals deficient in FXII or prekallikrein do not exhibit bleeding disorders (Kokoye Y et al., 2016). At the same time, studies using animal disease models suggest that these factors may contribute to thrombotic events under pathological conditions (Revenko AS et al., 2011; Matafonov A et al., 2014; reviewed by Schmaier A, 2016). Deficiencies of FXII, prekallikrein (PK), high molecular weight kininogen (HK), and the bradykinin B2 receptor are associated with prolonged thrombin generation times in murine models of arterial and venous thrombosis (Pauer HU et al., 2004, Stavrou EV et al., 2015, Merkulov S et al., 2008, Shariat-Madar Z et al., 2006; Fang C et al., 2013). Alternatively, FXI null mice exhibit a bleeding phenotype, whereas prolylcarboxypeptidase- and C1 inhibitor-deficient mice display a prothrombotic phenotype (Gailani D et al., Adams GA et al., 2011; Grover S et al., 2023). Large population studies indicate that FXII deficiency protects against venous thrombosis, whereas C1 inhibitor deficiency is associated with increased thrombotic risk (Haj AK et al., 2025; Rodriguez Espada A et al., 2026).
所含基因
7 个基因