PROC gene

The PROC gene (PROC stands for: Protein C, Inactivator Of Coagulation Factors Va And VIIIa) is a protein coding gene located on chromosome 2q14.3.

The PROC gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved into its activated form by the thrombin-thrombomodulin complex. The activated form contains a serine protease domain and is involved in the degradation of the activated forms of coagulation factors V and VIII. Protein C is a vitamin K-dependent serine protease that regulates blood clotting by inactivating factors Va and VIIIa in the presence of calcium ions and phospholipids. Exerts a protective effect on endothelial cell barrier function (Kovács KB et al. 2015).

Mutations in this gene are associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.

1. Ding Q et al. (2015) Protein C Thr315Ala variant results in gain of function but manifests as type II deficiency in diagnostic assays. Blood 125:2428-2434
2. Kovács KB et al (2015) Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency. Thromb Res 135:718-726.