Aliases for VWF Gene
External Ids for VWF Gene
Previous HGNC Symbols for VWF Gene
Previous GeneCards Identifiers for VWF Gene
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]
GeneCards Summary for VWF Gene
VWF (Von Willebrand Factor) is a Protein Coding gene. Diseases associated with VWF include Von Willebrand Disease, Type 1 and Von Willebrand Disease, Type 2. Among its related pathways are RET signaling and Paradoxical activation of RAF signaling by kinase inactive BRAF. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and integrin binding. An important paralog of this gene is MUC5AC.
UniProtKB/Swiss-Prot Summary for VWF Gene
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.