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

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Publications / Origin

  1. Eldor A, Rachmilewitz EA, The hypercoagulable state in thalassemia., Blood , 99(1), 36-43, 2002 PubMed
  2. Esmon CT, The protein C pathway., Chest , 124(3), 26S-32S, 2003 PubMed
  3. Mohan Rao LV, Esmon CT, Pendurthi UR, Endothelial cell protein C receptor: a multiliganded and multifunctional receptor., Blood , 124(10), 1553-62, 2014 PubMed
  4. 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 PubMed
Created on 2016-09-14 16:14:10, Last reviewed on (Show full history)


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