GeneID: 171
Names
| Common Name: | PROC | Type: | Gene |
|---|---|---|---|
| Chromosome: | 2 (NC_000002.12) | Locus: | NG_016323.1 (PROC) |
| HUGO Symbol: | PROC | Full Name: | protein C, inactivator of coagulation factors Va and VIIIa |
| Exons: | 9 | Introns: | 8 |
Description:
The PROC gene encodes protein C, a vitamin K-dependent protein with anticoagulant properties. It is synthesized in the liver and released in the plasma as a proenzyme. It is cleaved to its activated form, activated protein C (APC), by the thrombin-thrombomodulin complex on the surface of the endothelium. APC binds to the endothelial cell protein C receptor (ECPR) and mediates a cytoprotective effect via modulation of signaling in the pathways of inflammation and apoptosis. APC also binds to protein S on endothelial or platelet phospholipid surfaces, forming a complex that mediates degradation of the coagulation factors Vα and VIIIα and therefore downregulation of thrombin formation. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis. Low levels of protein C have been associated with increased thrombotic risk in patients with β-thalassaemia.
Synonyms: PC , APC , PROC1 , THPH3 , THPH4
Comments:
N/A
Number of entries/variants: 3
Publications / Origin
- Eldor A, Rachmilewitz EA, The hypercoagulable state in thalassemia., Blood , 99(1), 36-43, 2002
- Esmon CT, The protein C pathway., Chest , 124(3), 26S-32S, 2003
- Mohan Rao LV, Esmon CT, Pendurthi UR, Endothelial cell protein C receptor: a multiliganded and multifunctional receptor., Blood , 124(10), 1553-62, 2014
- Sun NA, Cheng P, Deng DH, Liu RR, Lai YR, Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report., Biomed Rep , 5(1), 23-26, 2016