Antithrombin
Antithrombin is a small molecule that inactivates several enzymes of the coagulation system. Its affinity for these molecules (i.e. its effectivity) is enhanced by heparin.
Function
Antithrombin is a serpin (serine protease inhibitor) that inactivates a number of enzymes from the coagulation system, namely Factor X, Factor IX and Factor II (thrombin).
Role in disease
Hereditary disorders of antithrombin are very rare and generally come to light when a patient suffers recurrent venous thrombosis and pulmonary embolism. This was first described by Egeberg in 1965. In renal failure, especially nephrotic syndrome, antithrombin is lost in the urine, leading to a higher activity of Factor II and Factor X and in increased tendency to thrombosis.
Genetics
The gene for antithrombin is located on the first chromosome, locus 1q23-q25.1.
Nomenclature
Antithrombin is officially called antithrombin III and is a member of a larger family of antithrombins (numbered I, II etc. to VI). All are serpinss. Only AT III (and possibly AT I) is medically significant, with AT III generally referred to as antithrombin.
Reference Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 1965;13:516–520. PMID 14347873.
External links Patient's pages on antithrombin (antithrombin deficiency)
|
|
