信号通路： Focal adhesion;ECM-receptor interaction;Complement and coagulation cascades;
功能： disease:Defects in VWF are associated with various forms of von Willebrand disease (VWD) [MIM:193400, 277480]. VWD is characterized by frequent bleeding (gingival, minor skin quantitative lacerations, menorrhagia, etc.). Type I VWD is associated with a deficiency of VWF; type II by normal to decreased plasma level of VWF; type III by a virtual absence of VWF. There are subtypes (A to H) of type II VWD; for example: type IIA is characterized by the absence of VWF high molecular weight multimers in plasma.,domain:The von Willebrand antigen 2 is required for multimerization of vWF and for its targeting to storage granules.,function:Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma.,online information:von Willebrand factor (vWF) mutation db,online information:Von Willebrand factor entry,PTM:All cysteine residues are involved in intrachain or interchain disulfide bonds.,similarity:Contains 1 CTCK (C-terminal cystine knot-like) domain.,similarity:Contains 3 VWFA domains.,similarity:Contains 3 VWFC domains.,similarity:Contains 4 TIL (trypsin inhibitory-like) domains.,similarity:Contains 4 VWFD domains.,subcellular location:Localized to storage granules.,subunit:Multimeric. Interacts with F8.,tissue specificity:Plasma.,
信号通路： Focal adhesion;ECM-receptor interaction;Complement and coagulation cascades;
功能： disease:Defects in VWF are associated with various forms of von Willebrand disease (VWD) [MIM:193400, 277480]. VWD is characterized by frequent bleeding (gingival, minor skin quantitative lacerations, menorrhagia, etc.). Type I VWD is associated with a deficiency of VWF; type II by normal to decreased plasma level of VWF; type III by a virtual absence of VWF. There are subtypes (A to H) of type II VWD; for example: type IIA is characterized by the absence of VWF high molecular weight multimers in plasma.,domain:The von Willebrand antigen 2 is required for multimerization of vWF and for its targeting to storage granules.,function:Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma.,online information:von Willebrand factor (vWF) mutation db,online information:Von Willebrand factor entry,PTM:All cysteine residues are involved in intrachain or interchain disulfide bonds.,similarity:Contains 1 CTCK (C-terminal cystine knot-like) domain.,similarity:Contains 3 VWFA domains.,similarity:Contains 3 VWFC domains.,similarity:Contains 4 TIL (trypsin inhibitory-like) domains.,similarity:Contains 4 VWFD domains.,subcellular location:Localized to storage granules.,subunit:Multimeric. Interacts with F8.,tissue specificity:Plasma.,
在线咨询
湘公网安备