Fibrinogen Alpha Chain (FGA) Antibody – Goat

This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016]

FGA: Fibrinogen has a double function: yielding monomers that polymerize into fibrin and acting as a cofactor in platelet aggregation. Defects in FGA are a cause of congenital afibrinogenemia (CAFBN). This is a rare autosomal recessive disorder characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen. The majority of cases of afibrinogenemia are due to truncating mutations. Variations in position Arg-35 (the site of cleavage of fibrinopeptide a by thrombin) leads to alpha- dysfibrinogenemias. Defects in FGA are a cause of amyloidosis type 8 (AMYL8); also known as systemic non-neuropathic amyloidosis or Ostertag-type amyloidosis. AMYL8 is a hereditary generalized amyloidosis due to deposition of apolipoprotein A1, fibrinogen and lysozyme amyloids. Viscera are particularly affected. There is no involvement of the nervous system. Clinical features include renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 4q28

Cellular Component: cell surface; external side of plasma membrane; extracellular region; extracellular space; fibrinogen complex; plasma membrane

Molecular Function: cell adhesion molecule binding; protein binding; receptor binding; structural molecule activity

Biological Process: blood coagulation; cell-matrix adhesion; cellular protein complex assembly; cellular protein metabolic process; extracellular matrix organization and biogenesis; fibrinolysis; induction of bacterial agglutination; plasminogen activation; platelet degranulation; positive regulation of exocytosis; positive regulation of heterotypic cell-cell adhesion; positive regulation of protein secretion; positive regulation of vasoconstriction; protein complex assembly; protein polymerization; response to calcium ion

Disease: Afibrinogenemia, Congenital; Amyloidosis, Familial Visceral; Dysfibrinogenemia, Congenital