SERPINC1 : serpin family C member 1
Description
The SERPINC1 (serpin family C member 1) is a protein-coding gene located on chromosome 1.
The SERPINC1 gene provides instructions for making a protein called antithrombin (previously known as antithrombin III), which is a type of serine protease inhibitor (serpin). Serpins help control several types of chemical reactions by blocking the activity of certain proteins. Antithrombin is found in the bloodstream and is important for controlling blood clotting. Antithrombin blocks the activity of proteins that promote blood clotting, especially a protein called thrombin. Antithrombin attaches (binds) to thrombin and certain other clotting proteins, which are then cleared from the bloodstream by the liver. While one part of antithrombin binds to thrombin and other clotting proteins, another part of the protein binds to a substance called heparin. Antithrombin changes its shape when it binds to heparin. This change in shape allows antithrombin to inactivate clotting proteins at a much faster rate.
SERPINC1 encodes antithrombin (AT-III), a critical serine protease inhibitor in plasma, regulating the blood coagulation cascade. AT-III inhibits thrombin, matriptase-3/TMPRSS7, and factors IXa, Xa, and XIa. Heparin significantly enhances its inhibitory activity.
SERPINC1 is also known as AT3, AT3D, ATIII, ATIII-R2, ATIII-T1, ATIII-T2, THPH7.
Associated Diseases
- Antithrombin III deficiency
- Hereditary thrombophilia due to congenital antithrombin deficiency
- Hereditary antithrombin deficiency
