Protein C, Activated Substrate (PROC) Protein

This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]

PROC: Protein C is a vitamin K-dependent serine protease that regulates blood coagulation by inactivating factors Va and VIIIa in the presence of calcium ions and phospholipids. Defects in PROC are the cause of thrombophilia due to protein C deficiency, autosomal dominant (THPH3). A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic. Individuals with decreased amounts of protein C are classically referred to as having type I protein C deficiency and those with normal amounts of a functionally defective protein as having type II deficiency. Defects in PROC are the cause of thrombophilia due to protein C deficiency, autosomal recessive (THPH4). A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare. Belongs to the peptidase S1 family.

Protein type: Apoptosis; EC 3.4.21.69; Protease

Chromosomal Location of Human Ortholog: 2q13-q14

Cellular Component: Golgi lumen; endoplasmic reticulum lumen; extracellular region

Molecular Function: protein binding; serine-type endopeptidase activity; calcium ion binding

Biological Process: cellular protein metabolic process; negative regulation of blood coagulation; blood coagulation; post-translational protein modification; proteolysis; peptidyl-glutamic acid carboxylation; leukocyte migration; negative regulation of apoptosis

Disease: Thrombophilia Due To Protein C Deficiency, Autosomal Recessive; Thrombophilia Due To Protein C Deficiency, Autosomal Dominant