F5

Domain B contains 35 x 9 AA tandem repeats, and 2 x 17 AA repeats.

Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin.

Factor V deficiency

FA5D

A blood coagulation disorder leading to a hemorrhagic diathesis known as parahemophilia.

None

The disease is caused by variants affecting the gene represented in this entry.

Thrombophilia due to activated protein C resistance

THPH2

A hemostatic disorder due to defective degradation of factor V by activated protein C. It is characterized by a poor anticoagulant response to activated protein C resulting in tendency to thrombosis.

None

The disease is caused by variants affecting the gene represented in this entry.

Budd-Chiari syndrome

BDCHS

A syndrome caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. Obstructions are generally caused by thrombosis and lead to hepatic congestion and ischemic necrosis. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain and abdominal ascites. Budd-Chiari syndrome is associated with a combination of disease states including primary myeloproliferative syndromes and thrombophilia due to factor V Leiden, protein C deficiency and antithrombin III deficiency. Budd-Chiari syndrome is a rare but typical complication in patients with polycythemia vera.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Ischemic stroke

ISCHSTR

A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Pregnancy loss, recurrent, 1

RPRGL1

A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Thrombin activates factor V proteolytically to the active cofactor, factor Va (formation of a heavy chain at the N-terminus and a light chain at the C-terminus).

Sulfation is required for efficient thrombin cleavage and activation and for full procoagulant activity.

Activated protein C inactivates factor V and factor Va by proteolytic degradation.

Phosphorylated by FAM20C in the extracellular medium.

Belongs to the multicopper oxidase family.

Plasma.

• Secreted

Coagulation factor V, Activated protein C cofactor, F5

• entrezGene:2153
• omim:612309
• swissprot:P12259

Proteins

Cardiovascular

251703Da