Gly74Ser mutation in protein C causes thrombosis due to a defect in protein S-dependent anticoagulant function.

ABSTRACT: Protein C is a vitamin K-dependent serine protease zymogen in plasma which upon activation by thrombin in complex with thrombomodulin (TM) down-regulates the clotting cascade by a feedback loop inhibition mechanism. Activated protein C (APC) exerts its anticoagulant function through protein S-dependent degradation of factors Va and VIIIa. We recently identified a venous thrombosis patient whose plasma level of protein C antigen is normal, but its anticoagulant activity is only 34 % of the normal level. Genetic analysis revealed that the proband and her younger brother carry a novel heterozygous mutation c.346G>A, p.Gly74Ser (G74S) in PROC. Thrombin generation assay indicated that the TM-dependent anticoagulant activity of the proband's plasma has been significantly impaired. We expressed p

SUBMITTER: Chen C 

PROVIDER: S-EPMC5493976 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature