Proc-flox Mouse

PROC, also known as Protein C, Inactivator Of Coagulation Factors Va And VIIIa, is a gene encoding protein C, an anticoagulation agent. Protein C deficiency, resulting from pathogenic variants of the PROC gene, can lead to vascular thrombosis disease, highlighting its importance in the anticoagulation pathway [1,2].

In a Chinese family, a novel mutation (c.237 + 5G > A) in intron 3 of the PROC gene was identified in a patient with pulmonary embolism caused by protein C deficiency [1]. In another study, a rare pathogenic variant (p.Ala178Pro) was found in four venous thrombosis (VTE) subjects, with in-vitro study showing reduced PROC antigen secretion and lower PROC activity levels in carriers [2]. Additionally, analysis of PROC SNPs in a thrombophilia family showed an association between certain SNPs and deep venous thrombosis (DVT) [3]. In the pediatric population, three SNPs at the PROC promoter region were associated with lower protein C activity but not an increased risk of thromboembolism [4].

In conclusion, the PROC gene is crucial for maintaining normal anticoagulation function. Genetic studies on PROC, such as identifying pathogenic variants and SNPs, have provided insights into its role in thrombosis-related diseases. Understanding the function of PROC through these genetic models helps in elucidating the mechanisms of vascular thrombosis diseases and may potentially guide the development of preventive and treatment strategies.