Deficiency Causing Mutations and Common Polymorphisms in the Factor XIII-A Gene

L. Muszbek

doi:10.1055/s-0037-1614061

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2000; 84(04): 524-527
DOI: 10.1055/s-0037-1614061

Commentary

Schattauer GmbH

Deficiency Causing Mutations and Common Polymorphisms in the Factor XIII-A Gene

L. Muszbek

¹From the Department of Clinical Biochemistry and Molecular Pathology, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary

› Author Affiliations

Abstract

Summary

Blood coagulation factor XIII (FXIII), for its unique features, used to be considered a stepchild among clotting factors. In contrast to other proenzyme clotting factors, it is the precursor of a transglutaminase and not of a proteolytic enzyme. By cross-linking peptide-bound glutamine and lysine side chains transglutaminases make, rather than break, peptide bonds. Activated FXIII (FXIIIa) cross-links fibrin α-chains and γ-chains and covalently attaches α₂-plasmin inhibitor to fibrin α-chains to strengthen fibrin mechanically and to protect it from fibrinolysis. In addition to being a clotting factor, FXIII is also an intracellular proenzyme present in platelets and monocytes/macrophages. The plasma factor is of heterotetrameric structure consisting of two potentially active A (FXIII-A) and two inhibitory/protective B (FXIII-B) subunits (A₂B₂), while its cellular counterpart is a dimer of FXIII-A. Plasma FXIII is activated by the concerted action of thrombin and Ca₂₊. Thrombin cleaves FXIII-A at Arg37-Gly38, then in the presence of Ca2+ FXIII-B dissociates and FXIII-A assumes an active configuration (reviewed in ref. 1).

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References

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