F13B Chromosome 1
Coagulation factor XIII B chain
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Sushi domain containing
Locus Type
gene with protein product
Location
1q31.3
Ensembl
ENSG00000143278
Associated Conditions (8)
Factor XIII
b subunit
deficiency of
Hereditary factor XIII deficiency disease
F13B-related disorder
Factor XIII deficiency
Coagulation factor deficiency syndrome
Cholesteatoma
Key Variants
RS149088047
Conflicting classifications of pathogenicity
Factor XIII, b subunit, deficiency of
Health Risk
RS17514253
Conflicting classifications of pathogenicity
Factor XIII, b subunit, deficiency of
Health Risk
RS17514281
Conflicting classifications of pathogenicity
Factor XIII, b subunit, deficiency of
Health Risk
RS17549671
Conflicting classifications of pathogenicity
Factor XIII, b subunit, deficiency of
Health Risk
RS375961962
Conflicting classifications of pathogenicity
Factor XIII, b subunit, deficiency of
Health Risk
RS5991
Conflicting classifications of pathogenicity
Factor XIII, b subunit, deficiency of
Health Risk
RS5994
Conflicting classifications of pathogenicity
Factor XIII, b subunit, deficiency of
Health Risk
RS5999
Conflicting classifications of pathogenicity
F13B-related disorder, Factor XIII, b subunit
Health Risk
RS2527146722
Likely pathogenic
F13B-related disorder, F13B-related disorder
Health Risk
RS550859190
Likely pathogenic
Factor XIII, b subunit, deficiency of
Health Risk
RS121913075
Pathogenic
Factor XIII, b subunit, deficiency of
Health Risk
RS2125071982
Pathogenic
Factor XIII, b subunit, deficiency of
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149088047 | Health Risk | Conflicting classifications of pathogenicity | Factor XIII, b subunit, deficiency of |
| RS17514253 | Health Risk | Conflicting classifications of pathogenicity | Factor XIII, b subunit, deficiency of |
| RS17514281 | Health Risk | Conflicting classifications of pathogenicity | Factor XIII, b subunit, deficiency of |
| RS17549671 | Health Risk | Conflicting classifications of pathogenicity | Factor XIII, b subunit, deficiency of |
| RS375961962 | Health Risk | Conflicting classifications of pathogenicity | Factor XIII, b subunit, deficiency of |
| RS5991 | Health Risk | Conflicting classifications of pathogenicity | Factor XIII, b subunit, deficiency of |
| RS5994 | Health Risk | Conflicting classifications of pathogenicity | Factor XIII, b subunit, deficiency of |
| RS5999 | Health Risk | Conflicting classifications of pathogenicity | F13B-related disorder, Factor XIII, b subunit |
| RS2527146722 | Health Risk | Likely pathogenic | F13B-related disorder, F13B-related disorder |
| RS550859190 | Health Risk | Likely pathogenic | Factor XIII, b subunit, deficiency of |
| RS121913075 | Health Risk | Pathogenic | Factor XIII, b subunit, deficiency of |
| RS2125071982 | Health Risk | Pathogenic | Factor XIII, b subunit, deficiency of |
| RS746736072 | Health Risk | Pathogenic | — |
| RS748297201 | Health Risk | Pathogenic | Factor XIII, b subunit, deficiency of |
| RS748757906 | Health Risk | Pathogenic | Factor XIII, b subunit, deficiency of |
| RS779048554 | Health Risk | Pathogenic | Coagulation factor deficiency syndrome, Factor XIII, b subunit |
| RS797044453 | Health Risk | Pathogenic | Factor XIII, b subunit, deficiency of |
| RS928709083 | Health Risk | Pathogenic | Cholesteatoma, Cholesteatoma |