F12 Gene

Last updated on: 30.07.2022

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Definition
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The F12 gene (F12 stands for coagulation factor XII) is a protein-coding gene located on chromosome 5q35.3.

General information
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The F12 gene encodes coagulation factor XII (Hageman factor), which circulates in the blood as a zymogen. This single-chain zymogen is converted into a two-chain serine protease with a heavy chain (alpha factor XIIa) and a light chain. The heavy chain contains two fibronectin-like domains, two epidermal growth factor (EGF)-like domains, a kringle domain, and a proline-rich domain, whereas the light chain contains only one catalytic domain.

Upon activation, further cleavage occurs in the heavy chain leading to the formation of beta factor XIIa light chain, and alpha factor XIIa light chain becomes beta factor XIIa heavy chain.

Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha factor XIIa and then to beta factor XIIa.

Active factor XIIa is involved in the initiation of blood clotting, fibrinolysis, and the formation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause clinical symptoms, and the only effect is to prolong blood clotting time.

Clinical picture
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Diseases associated with F12 include:

  • Factor XII deficiency

and

  • Angioedema hereditary mutation in F12 (Hereditary Angioedema Type III).

Literature
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  1. Binkley KE et al (2000) Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. J Allergy Clin Immun 106: 546-550.
  2. Bork K et al (2000) Hereditary angioedema with normal C1-inhibitor activity in women. Lancet 356: 213-217.
  3. Cichon S et al (2006) Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am J Hum Genet 79: 1098-1104.
  4. Dewald G et al (2006) Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun 343: 1286-1289.
  5. Egeberg O (1970) Factor XII defect and hemorrhage. Evidence for a new type of hereditary hemostatic disorder. Thromb Diath Haemorrh 23: 432-440.
  6. Goodnough LT et al (1983) Thrombosis or myocardial infarction in congenital clotting factor abnormalities and chronic thrombocytopenias: a report of 21 patients and a review of 50 previously reported cases. Medicine 62: 248-255.
  7. Kuhli C et al (2004) Factor XII deficiency: a thrombophilic risk factor for retinal vein occlusion. Am J Ophthal 137: 459-464.
  8. Lämmle, B et al. (1991) Thromboembolism and bleeding tendency in congenital factor XII deficiency--a study on 74 subjects from 14 Swiss families. Thromb Haemost 65: 117-121.
  9. Ratnoff OD et al (1962) Further studies on the inheritance of Hageman trait. J. Lab. Clin. Med. 59: 980-985.

Outgoing links (1)

Factor xii;

Last updated on: 30.07.2022