VWF
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]
Full Name
Von Willebrand Factor
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.
Biological Process
Biological Process blood coagulation Source:UniProtKB1 Publication
Biological Process cell adhesion Source:UniProtKB1 Publication
Biological Process cell-substrate adhesion Source:UniProtKB1 Publication
Biological Process hemostasis Source:UniProtKB1 Publication
Biological Process platelet activation Source:UniProtKB1 Publication
Biological Process positive regulation of intracellular signal transduction Source:ARUK-UCL1 Publication
Biological Process response to wounding Source:UniProtKB1 Publication
Cellular Location
Secreted
Secreted, extracellular space, extracellular matrix
Localized to storage granules.
Involvement in disease
von Willebrand disease 1 (VWD1):
A common hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in impaired platelet aggregation. Von Willebrand disease type 1 is characterized by partial quantitative deficiency of circulating von Willebrand factor, that is otherwise structurally and functionally normal. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma.
von Willebrand disease 2 (VWD2):
A hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in altered platelet aggregation. Von Willebrand disease type 2 is characterized by qualitative deficiency and functional anomalies of von Willebrand factor. It is divided in different subtypes including 2A, 2B, 2M and 2N (Normandy variant). The mutant VWF protein in types 2A, 2B and 2M are defective in their platelet-dependent function, whereas the mutant protein in type 2N is defective in its ability to bind factor VIII. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma.
von Willebrand disease 3 (VWD3):
A severe hemorrhagic disorder due to a total or near total absence of von Willebrand factor in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII. Bleeding usually starts in infancy and can include epistaxis, recurrent mucocutaneous bleeding, excessive bleeding after minor trauma, and hemarthroses.
PTM
All cysteine residues are involved in intrachain or interchain disulfide bonds.
N- and O-glycosylated.
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Datasheet