Gene: F13B

Alternate names for this Gene: FXIIIB

Gene Summary: This gene encodes coagulation factor XIII B subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as a plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon activation by the cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q31.3

Description of this Gene: coagulation factor XIII B chain

Type of Gene: protein-coding

rs121913075 in F13B gene and Factor XIII, B Subunit, Deficiency Of PMID 8324218 1993 Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII.

PMID 26247044 2015 Structural and functional influences of coagulation factor XIII subunit B heterozygous missense mutants.

PMID 11313256 2001 Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation.

PMID 20331752 2010 Mutations affecting disulphide bonds contribute to a fairly common prevalence of F13B gene defects: results of a genetic study in 14 families with factor XIII B deficiency.

rs10484502 in F13B gene and von Willebrand's factor (lab test) PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.