组成
PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA
背景
This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015],
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.,
