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GenoLensGenoLens

FGA

Chr 4q31.3

fibrinogen alpha chain

MANE:
ENST00000403106.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bleeding and platelet disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Hereditary systemic amyloidosis

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Inherited bleeding disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Periodic fever syndromes

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Thrombophilia with a likely monogenic cause

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • familial dysfibrinogenemia

    0.79
  • Familial renal amyloidosis

    0.76
  • familial visceral amyloidosis

    0.76
  • congenital afibrinogenemia

    0.75
  • familial hypodysfibrinogenemia

    0.66
  • congenital fibrinogen deficiency

    0.62
  • Familial afibrinogenemia

    0.60
  • cancer

    0.59
  • Hypofibrinogenemia

    0.59
  • Noonan syndrome

    0.53

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

Protein function (UniProt)

Fibrinogen alpha chain

Cleaved by the protease thrombin to yield monomers which, together with fibrinogen beta (FGB) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However, subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets via an ITGB3-dependent pathway. Maternal fibrinogen is essential for successful pregnancy. Fibrin deposition is also associated with infection, where it protects against IFNG-mediated hemorrhage. May also facilitate the immune response via both innate and T-cell mediated pathways

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.