Gene Symbol | PROC |
Entrez Gene ID | 5624 |
Full Name | protein C, inactivator of coagulation factors Va and VIIIa |
Synonyms | APC,PC,PROC1,THPH3,THPH4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]. |
Disorder MIM: | |
Disorder Html: | Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3); Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3) |