缺陷 F8 加速 A2 亚基解离
中文名称
通路描述
A2 多肽的保留对于正常激活的因子 VIII (FVIIIa) 的稳定性至关重要，且 A2 亚基的解离与 FVIIIa 的失活相关，进而导致 FXase 活性丧失。位于预测的 A1-A2 和 A2-A3 界面处的 HA 相关突变 (R550H, A303E, S308L, N713I, R717W 和 R717L) 被认为破坏了潜在的亚基间氢键，并表现出 FVIIIa 失活速率增加、由于 A2 亚基解离速率增加而导致的分子表型 (Pipe SW 等人，1999; Hakeos WH 等人，2002)。
英文描述
Defective F8 accelerates dissociation of the A2 domain Retention of A2 polypeptide is required for normal stability of activated factor VIII (FVIIIa) and dissociation of A2 correlates with FVIIIa inactivation and consequent loss of FXase activity. Hemophilia A (HA)-associated mutations (R550H, A303E, S308L, N713I, R717W and R717L) within the predicted A1-A2 and A2-A3 interface are thought to disrupt potential intersubunit hydrogen bonds and have the molecular phenotype of increased rate of inactivation of FVIIIa due to increased rate of A2 subunit dissociation (Pipe SW et al. 1999; Hakeos WH et al. 2002)
所含基因
1 个基因