PROS1
Function
Anticoagulant plasma protein; it is a cofactor to activated protein C in the degradation of coagulation factors Va and VIIIa. It helps to prevent coagulation and stimulating fibrinolysis.
Involvement in disease
Thrombophilia due to protein S deficiency, autosomal dominant
THPH5
A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Based on the plasma levels of total and free PROS1 as well as the serine protease-activated protein C cofactor activity, three types of THPH5 have been described: type I, characterized by reduced total and free PROS1 levels together with reduced anticoagulant activity; type III, in which only free PROS1 antigen and PROS1 activity levels are reduced; and the rare type II which is characterized by normal concentrations of both total and free PROS1 antigen, but low cofactor activity.
None
The disease is caused by variants affecting the gene represented in this entry.
Thrombophilia due to protein S deficiency, autosomal recessive
THPH6
A very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
Tissue Specificity
Plasma.
Cellular localization
- Secreted
Alternative names
PROS, PROS1, Vitamin K-dependent protein S