PROC gene
The PROC gene provides instructions for making protein C, a vital regulator that prevents excessive blood clotting and helps control inflammation.
Normal Function
The PROC gene provides instructions for making protein C, which is produced in the liver and released into the bloodstream. Protein C is essential for controlling blood clotting and inflammation. It remains inactive until it attaches to a protein called thrombin, which converts it into activated protein C (APC).
APC functions by cutting and inactivating two proteins that promote clotting: factor Va and factor VIIIa. By regulating these factors, protein C ensures that blood clotting occurs only when necessary.
Health Conditions Related to Genetic Changes
Protein C deficiency
At least 270 mutations in the PROC gene cause protein C deficiency, a condition that increases the risk of abnormal blood clots. This deficiency is categorized into two types:
- Type I: Mutations result in reduced levels of protein C. Because there is not enough protein to control clotting, the risk of abnormal clots increases.
- Type II: Mutations result in the production of an altered protein C that has reduced activity. While levels of the protein may be normal, the protein cannot effectively interact with other clotting molecules, leading to an increased risk of abnormal clots.
Other Names for This Gene
- PC
- PROC1
- PROC_HUMAN
- protein C
- protein C (inactivator of coagulation factors Va and VIIIa)
