Proc disease, more accurately related to mutations in the PROC gene, refers to a condition often linked to Protein C deficiency type I. This deficiency arises from mutations within the PROC gene, resulting in reduced levels of functional protein C.
Understanding Protein C Deficiency
- The Role of Protein C: Protein C is a vital protein in the body responsible for controlling blood clotting.
- Cause of Deficiency: Mutations in the PROC gene lead to insufficient production of protein C.
- Consequences: Without adequate protein C, the body struggles to regulate clot formation, significantly increasing the risk of developing abnormal blood clots. This is the primary health concern associated with PROC gene mutations causing Protein C deficiency type I (as of October 1, 2009).
In summary, a mutation in the PROC gene can lead to Protein C deficiency type I, where reduced levels of protein C increase the risk of abnormal blood clots.
