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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage.

Publications / Origin

  1. Ichinose A, Physiopathology and regulation of factor XIII., Thromb. Haemost. , 86(1), 57-65, 2001 PubMed
  2. 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 PubMed
Created on 2016-04-26 16:55:16, Last reviewed on (Show full history)


Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

Please publish modules in offcanvas position.