FGA gene
The FGA gene provides instructions for the fibrinogen A alpha chain, a critical protein subunit required for blood clot formation.
Normal Function
The FGA gene provides instructions for making a protein called the fibrinogen A alpha (Aα) chain, one subunit of the fibrinogen protein. This protein is important for blood clot formation (coagulation), which is needed to stop excessive bleeding after injury. To form fibrinogen, the Aα chain attaches to two other proteins called the fibrinogen B beta (Bβ) and fibrinogen gamma (γ) chains. Two sets of this three-protein complex combine to form functional fibrinogen.
For coagulation to occur, another protein called thrombin removes a piece from the Aα and Bβ subunits. This process converts fibrinogen to fibrin, the main protein in blood clots. Fibrin proteins attach to each other, forming a stable network that makes up the blood clot.
Health Conditions Related to Genetic Changes
Congenital afibrinogenemia
Mutations in the FGA gene can lead to congenital afibrinogenemia, a condition that causes excessive bleeding due to the absence of fibrinogen protein in the blood. If any fibrinogen Aα chain is produced, it is nonfunctional. Because this condition occurs when both copies of the FGA gene are altered, there is a complete absence of functional fibrinogen Aα chain, preventing the assembly of fibrinogen and the formation of blood clots.
Other disorders
- Hypofibrinogenemia: Characterized by decreased levels of fibrinogen in the blood, caused by mutations that reduce but do not eliminate the production of the fibrinogen Aα chain.
- Dysfibrinogenemia: Characterized by abnormally functioning fibrinogen present at normal levels, usually caused by mutations that change a single amino acid. This can lead to excessive bleeding or abnormal blood clotting (thrombosis).
- Hypodysfibrinogenemia: Characterized by low levels of abnormally functioning fibrinogen protein in the blood.
- Hereditary renal amyloidosis: Caused by FGA mutations that lead to the accumulation of abnormal fibrinogen Aα chain proteins in the kidneys (amyloid deposits), resulting in kidney impairment and potential failure.
Other Names for This Gene
- Fib2
- FIBA_HUMAN
- fibrinogen alpha chain isoform alpha preproprotein
- fibrinogen alpha chain isoform alpha-E preproprotein
- fibrinogen, A alpha polypeptide
