Gene Symbol | VWF |
Entrez Gene ID | 7450 |
Full Name | von Willebrand factor |
Synonyms | F8VWF,VWD |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3); von Willebrand disease, type 1, 193400 (3); von Willibrand disease, type 3, 277480 (3) |