prothrombin: Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and wound healing. Defects in F2 are the cause of factor II deficiency (FA2D). It is a very rare blood coagulation disorder characterized by mucocutaneous bleeding symptoms. The severity of the bleeding manifestations correlates with blood factor II levels. Genetic variations in F2 may be a cause of susceptibility to ischemic stroke (ISCHSTR); also known as cerebrovascular accident or cerebral infarction. 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. Defects in F2 are the cause of thrombophilia due to thrombin defect (THPH1). It is a multifactorial disorder of hemostasis characterized by abnormal platelet aggregation in response to various agents and recurrent thrombi formation. A common genetic variation in the 3-prime untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increased risk of venous thrombosis. Defects in F2 are associated with susceptibility to pregnancy loss, recurrent, type 2 (RPRGL2). 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. Belongs to the peptidase S1 family.
Protein type: Secreted; EC 3.4.21.5; Apoptosis; Secreted, signal peptide; Protease
Cellular Component: extracellular matrix; extracellular space; cell; extracellular region; cytosol
Molecular Function: peptidase activity; protein binding; hydrolase activity; serine-type peptidase activity; serine-type endopeptidase activity; calcium ion binding; catalytic activity; receptor binding
Biological Process: negative regulation of proteolysis; platelet activation; positive regulation of blood coagulation; cytosolic calcium ion homeostasis; positive regulation of collagen biosynthetic process; proteolysis; positive regulation of cell growth; positive regulation of phosphoinositide 3-kinase cascade; regulation of cell shape; fibrinolysis; cell surface receptor linked signal transduction; hemostasis; regulation of gene expression; positive regulation of cell proliferation; negative regulation of astrocyte differentiation; response to wounding; acute-phase response; positive regulation of protein amino acid phosphorylation; positive regulation of release of sequestered calcium ion into cytosol; blood coagulation
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