GeneID: 83
Names
| Common Name: | F13A1 | Type: | Gene |
|---|---|---|---|
| Chromosome: | 6 (NC_000006.12) | Locus: | NG_008107.1 (F13A1) |
| HUGO Symbol: | F13A1 | Full Name: | coagulation factor XIII A chain |
| Exons: | 15 | Introns: | 14 |
Description:
This gene encodes the A subunit of factor XIII, the last enzyme generated in the blood coagulation cascade. Factor XIII (fibrin-stabilizing factor) is the proenzyme for plasma transglutaminase composed of two A subunits (FXIII-A2) and two B subunits (FXIII-B2). The A subunits contain the catalytic site with transglutaminase activity, while the B subunits are noncatalytic and may serve as plasma carrier molecules. In the presence of fibrin, thrombin converts Factor XIII to its activated form factor FXIII-A2, which in turn catalyses intermolecular cross-linking reactions between various proteins such as fibrin monomers, α2-plasmin inhibitor, fibronectin, and collagen. These reactions stabilize the fibrin clot, contributing to hemostasis, wound healing, maintenance of pregnancy, and angiogenesis. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. Polymorphisms in this gene associated with priapism in sickle cell patients.
Synonyms: F13A
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- Ichinose A, Physiopathology and regulation of factor XIII., Thromb. Haemost. , 86(1), 57-65, 2001
- Elliott L, Ashley-Koch AE, De Castro L, Jonassaint J, Price J, Ataga KI, Levesque MC, Brice Weinberg J, Eckman JR, Orringer EP, Vance JM, Telen MJ, Genetic polymorphisms associated with priapism in sickle cell disease., Br. J. Haematol. , 137(3), 262-7, 2007