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F13A1

Chr 6p25.1

coagulation factor XIII A chain

MANE:
ENST00000264870.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bleeding and platelet disorders

    BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
  • Factor XIII deficiency

    BIALLELIC, autosomal or pseudoautosomal
  • Inherited bleeding disorders

    BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
  • Familial hypercholesterolaemia

Disease associations (Open Targets)

  • Factor XIII subunit A deficiency

    0.81
  • factor XIII, A subunit, deficiency of

    0.74
  • congenital factor XIII deficiency

    0.53
  • thrombophilia due to thrombin defect

    0.49
  • hemorrhage

    0.46
  • neurodegenerative disease

    0.39
  • Rare genetic coagulation disorder

    0.37
  • DNA methylation

    0.34
  • placental retention

    0.33
  • hyperpituitarism

    0.33

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Coagulation factor XIII A chain

Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation of gamma-glutamyl-epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Also cross-link alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.