F13A1 Chromosome 6
Coagulation factor XIII A chain
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Transglutaminases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
6p25.1
Ensembl
ENSG00000124491
Associated Conditions (15)
Factor XIII
A subunit
deficiency of
F13A1-related disorder
Inborn genetic diseases
Clear cell carcinoma of kidney
Malignant tumor of esophagus
Hereditary factor XIII deficiency disease
Myocardial infarction
protection against
Venous thrombosis
Thrombophilia due to thrombin defect
Gastric cancer
susceptibility to
Nonpapillary renal cell carcinoma
Key Variants
RS138690353
Conflicting classifications of pathogenicity
Factor XIII, A subunit, deficiency of
Health Risk
RS138754417
Conflicting classifications of pathogenicity
Factor XIII, A subunit, deficiency of
Health Risk
RS138943514
Conflicting classifications of pathogenicity
Factor XIII, A subunit, deficiency of
Health Risk
RS139164988
Conflicting classifications of pathogenicity
Factor XIII, A subunit, deficiency of
Health Risk
RS142274716
Conflicting classifications of pathogenicity
Factor XIII, A subunit, deficiency of
Health Risk
RS143711562
Conflicting classifications of pathogenicity
Factor XIII, A subunit, deficiency of
Health Risk
RS187027323
Conflicting classifications of pathogenicity
Factor XIII, A subunit, deficiency of
Health Risk
RS5982
Conflicting classifications of pathogenicity
Factor XIII, A subunit, deficiency of
Health Risk
RS5983
Conflicting classifications of pathogenicity
Factor XIII, A subunit, deficiency of
Health Risk
RS5985
Conflicting classifications of pathogenicity
Myocardial infarction, protection against, Venous thrombosis
Health Risk
RS5989
Conflicting classifications of pathogenicity
Factor XIII, A subunit, deficiency of
Health Risk
RS76451285
Conflicting classifications of pathogenicity
Factor XIII, A subunit, deficiency of
Health Risk
All Variants (52)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138690353 | Health Risk | Conflicting classifications of pathogenicity | Factor XIII, A subunit, deficiency of |
| RS138754417 | Health Risk | Conflicting classifications of pathogenicity | Factor XIII, A subunit, deficiency of |
| RS138943514 | Health Risk | Conflicting classifications of pathogenicity | Factor XIII, A subunit, deficiency of |
| RS139164988 | Health Risk | Conflicting classifications of pathogenicity | Factor XIII, A subunit, deficiency of |
| RS142274716 | Health Risk | Conflicting classifications of pathogenicity | Factor XIII, A subunit, deficiency of |
| RS143711562 | Health Risk | Conflicting classifications of pathogenicity | Factor XIII, A subunit, deficiency of |
| RS187027323 | Health Risk | Conflicting classifications of pathogenicity | Factor XIII, A subunit, deficiency of |
| RS5982 | Health Risk | Conflicting classifications of pathogenicity | Factor XIII, A subunit, deficiency of |
| RS5983 | Health Risk | Conflicting classifications of pathogenicity | Factor XIII, A subunit, deficiency of |
| RS5985 | Health Risk | Conflicting classifications of pathogenicity | Myocardial infarction, protection against, Venous thrombosis |
| RS5989 | Health Risk | Conflicting classifications of pathogenicity | Factor XIII, A subunit, deficiency of |
| RS76451285 | Health Risk | Conflicting classifications of pathogenicity | Factor XIII, A subunit, deficiency of |
| RS768024997 | Health Risk | Conflicting classifications of pathogenicity | Factor XIII, A subunit, deficiency of |
| RS1176119481 | Health Risk | Likely pathogenic | Factor XIII, A subunit, deficiency of |
| RS1561645895 | Health Risk | Likely pathogenic | Factor XIII, A subunit, deficiency of |
| RS1757202231 | Health Risk | Likely pathogenic | Factor XIII, A subunit, deficiency of |
| RS2480385304 | Health Risk | Likely pathogenic | Factor XIII, A subunit, deficiency of |
| RS2480490515 | Health Risk | Likely pathogenic | Factor XIII, A subunit, deficiency of |
| RS2480618246 | Health Risk | Likely pathogenic | Factor XIII, A subunit, deficiency of |
| RS2480618469 | Health Risk | Likely pathogenic | — |
| RS2480618478 | Health Risk | Likely pathogenic | Factor XIII, A subunit, deficiency of |
| RS2480651992 | Health Risk | Likely pathogenic | Factor XIII, A subunit, deficiency of |
| RS267606787 | Health Risk | Likely pathogenic | Factor XIII, A subunit, deficiency of |
| RS757172838 | Health Risk | Likely pathogenic | Factor XIII, A subunit, deficiency of |
| RS778181928 | Health Risk | Likely pathogenic | Factor XIII, A subunit, deficiency of |
| RS121913064 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS121913065 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS121913066 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS121913067 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS121913069 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS121913070 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS121913071 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS121913073 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS121913074 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS1290008988 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS1416626948 | Health Risk | Pathogenic | Myocardial infarction, susceptibility to, Factor XIII |
| RS1479557022 | Health Risk | Pathogenic | F13A1-related disorder, F13A1-related disorder |
| RS1561641262 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS1561673120 | Health Risk | Pathogenic | Hereditary factor XIII deficiency disease, Hereditary factor XIII deficiency disease |
| RS1757581465 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS1760997136 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS2113123881 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS2113184331 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS267606788 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS267606789 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS2815822 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS372036357 | Health Risk | Pathogenic | — |
| RS760818476 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS763797788 | Health Risk | Pathogenic | Factor XIII, A subunit, deficiency of |
| RS774669729 | Health Risk | Pathogenic | F13A1-related disorder, F13A1-related disorder |