Coagulation factor V and thrombophilia: background and mechanisms.
Human coagulation factor V (FV) is an essential coagulation protein with functions in both the pro- and anticoagulant pathways. Failure to express and control FV functions can either lead to bleeding, or to thromboembolic disease. Both events may develop into a life-threatening condition. Since the first description of APC resistance, and in particular the description of the so-called factor V(Leiden) mutation, in which a prominent activated protein C cleavage site in FV has been abolished through a mutation in the FV gene, FV has been in the center of attention of thrombosis research. In this review we describe how the functions of FV are expressed and regulated and provide an extensive description of the role that FV plays in the etiology of thromboembolic disease.
Segers
Kenneth
K
Department of Biochemistry, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands.
Dahlbäck
Björn
B
Nicolaes
Gerry A F
GA
D020016:Activated Protein C Resistance / Q000097:blood / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D001665:Binding Sites; D005165:Factor V / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D015943:Factor Va / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D020022:Genetic Predisposition to Disease; D006487:Hemostasis / Q000235:genetics; D006801:Humans; D008958:Models, Molecular; D017354:Point Mutation; D011485:Protein Binding; D011486:Protein C / Q000737:chemistry / Q000378:metabolism*; D011487:Protein Conformation; D018570:Risk Assessment; D012307:Risk Factors; D013923:Thromboembolism / Q000097:blood / Q000209:etiology* / Q000235:genetics / Q000378:metabolism; D013927:Thrombosis / Q000097:blood / Q000209:etiology* / Q000235:genetics / Q000378:metabolism
D011486:Protein C; C095381:factor V Leiden; D015943:Factor Va; D005165:Factor V