Gene: F13A1

Alternate names for this Gene: F13A

Gene Summary: This gene encodes the coagulation factor XIII A 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 plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon 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. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. 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: 6

Location in Chromosome : 6p25.1

Description of this Gene: coagulation factor XIII A chain

Type of Gene: protein-coding

rs6927354 in F13A1 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

PMID 21116278 2011 Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.

rs3024321 in F13A1 gene and Coagulation factor measurement PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.

rs121913064 in F13A1 gene and Factor Xiii, A Subunit, Deficiency Of PMID 24329762 2014 Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations.

PMID 20179087 2010 Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function.

PMID 24286209 2014 Severe congenital factor XIII deficiency caused by novel W187X and G273V mutations in the F13A gene; diagnosis and classification according to the ISTH/SSC guidelines.

PMID 1353995 1992 Identification of a point mutation in factor XIII A subunit deficiency.

PMID 24889649 2014 Eight novel F13A1 gene missense mutations in patients with mild FXIII deficiency: in silico analysis suggests changes in FXIII-A subunit structure/function.

PMID 27363989 2016 Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action.

PMID 28520207 2017 Comparison of F13A1 gene mutations in 73 patients treated with recombinant FXIII-A2.

PMID 24118344 2014 Factor XIII deficiency: complete phenotypic characterization of two cases with novel causative mutations.

PMID 8547636 1996 Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit.

PMID 11167856 2001 Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency.

rs140712764 in F13A1 gene and Malignant neoplasm of prostate PMID 23555315 2013 Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

rs10484323 in F13A1 gene and von Willebrand's factor (lab test) PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.