凝血酶缺陷 F8 切割
中文名称
通路描述
在正常人血浆中，凝血酶在因子 VIII (FVIII) 的赖氨酸残基 391 (A1-A2 结构域交界处) 和 759 (A2-B 结构域交界处) 处切割 FVIII，产生重链片段，并在 R1708 (a3-A3 结构域交界处) 处切割产生轻链片段 (Eaton D 等人，1986; Hill-Eubanks DC 等人，1989)。影响因子 VIII 蛋白凝血酶切割位点的赖氨酸残基的突变会导致轻度/中度 HA (Pattinson JK 等人，1990; Arai M 等人，1990; Schwaab R 等人，1991)。Reactome 事件描述了因凝血酶切割位点缺陷或附近缺陷导致的 HA 相关 FVIII 变体凝血酶介导激活失败 (R391C, R391H, S392L, R1708C 和 R1708H)。
英文描述
Defective F8 cleavage by thrombin In normal human plasma, thrombin cleaves factor VIII (FVIII) after arginine residues 391 (A1-A2 domain junction) and 759 (A2-B domain junction) to yield heavy chain fragments and at R1708 (a3-A3 junction) to yield the light chain fragment (Eaton D et al. 1986; Hill-Eubanks DC et al. 1989). Mutations affecting arginine residues located at the thrombin cleavage sites of factor VIII protein result in mild/moderate hemophilia A (HA) (Pattinson JK et al. 1990; Arai M et al. 1990; Schwaab R et al. 1991). The Reactome event describes failed thrombin-mediated activation of HA-associated FVIII variants (R391C, R391H, S392L, R1708C and R1708H) due to defects at or close to thrombin cleavage sites.
所含基因
3 个基因