Defective VWF binding to collagen type I

Upon vascular injury, circulating von Willebrand factor (VWF) binds to exposed vascular collagen. This Reactome event shows defective binding of VWF to collagen type I caused by loss-of-function mutations in the A3 domain of VWF found in patients with von Willebrand disease (VWD) type 2M, which is characterized by defects in platelet adhesion and/or collagen binding with normal or subnormal VWF multimer distribution.

在血管损伤事件中，循环中的冯·威勒布兰德因子（VWF）会与暴露的血管胶原蛋白相结合。本Reactome事件揭示了由于冯·威勒布兰德病（VWD）2M型患者VWF的A3结构域功能缺失突变所导致的VWF与胶原蛋白I型结合缺陷。冯·威勒布兰德病2M型以血小板粘附和/或胶原蛋白结合缺陷为特征，其VWF多聚体分布则表现为正常或亚正常状态。