PROC, the Protein C, Inactivator Of Coagulation Factors Va And VIIIa gene, encodes protein C which is an anticoagulation agent. Protein C deficiency, resulting from pathogenic variants of PROC, can lead to vascular thrombosis disease, such as pulmonary embolism [1]. The gene plays a crucial role in the anticoagulation pathway, and its proper function is vital for maintaining normal blood coagulation [1,2,3,4]. Genetic models can be used to study PROC and understand its function in normal and disease states.

Pathogenic mutations of the PROC gene have been identified in patients with protein C deficiency-associated pulmonary embolism and familial venous thrombosis. For example, a novel mutation in intron 3 of PROC was found in a patient with pulmonary embolism, and a rare pathogenic variant (p.Ala178Pro) was identified in VTE subjects, causing PROC type I activity deficiency likely due to decreased secretion [1,2]. Also, certain single nucleotide polymorphisms (SNPs) in PROC were associated with deep venous thrombosis in a thrombophilia family, and SNPs at the PROC promoter region were associated with lower protein C activity but not increased thromboembolism risk in the pediatric population [3,4].

In conclusion, PROC is essential for anticoagulation, and its dysfunction due to mutations or SNPs can lead to thrombosis-related diseases. The study of PROC through genetic models helps to understand the molecular mechanisms underlying these diseases, providing potential insights for diagnosis, treatment, and prevention of vascular thrombosis diseases [1,2,3,4].

References:

1. Zhang, Zhaorui, Yang, Zhen, Chen, Mei, Li, Yuzhu. . Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review. In Medicine, 101, e31221. doi:10.1097/MD.0000000000031221. https://pubmed.ncbi.nlm.nih.gov/36281079/

2. Yue, Yongjian, Liu, Shengguo, Han, Xuemei, Zou, Chang, Fu, Yingyun. 2019. Pathogenic variants of PROC gene caused type I activity deficiency in a familial Chinese venous thrombosis. In Journal of cellular and molecular medicine, 23, 7099-7104. doi:10.1111/jcmm.14563. https://pubmed.ncbi.nlm.nih.gov/31338992/

3. Wu, Dawen, Zhong, Zhanghua, Chen, Yunfei, Zhao, Jianming, Deng, Chaosheng. 2019. Analysis of PROC and PROS1 single nucleotide polymorphisms in a thrombophilia family. In The clinical respiratory journal, 13, 530-537. doi:10.1111/crj.13055. https://pubmed.ncbi.nlm.nih.gov/31295762/

4. Udomkittivorakul, Natsumon, Sasanakul, Werasak, Eu-Ahsunthornwattana, Jakris, Songdej, Duantida, Sirachainan, Nongnuch. . PROC Promoter Single Nucleotide Polymorphisms Associated With Low Protein C Activity But Not Increased Risk of Thromboembolism in Pediatric Population. In Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis, 26, 1076029620935206. doi:10.1177/1076029620935206. https://pubmed.ncbi.nlm.nih.gov/32609543/