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Genetics Home Reference: your guide to understanding genetic conditions
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FGA

Reviewed February 2012

What is the official name of the FGA gene?

The official name of this gene is “fibrinogen alpha chain.”

FGA is the gene's official symbol. The FGA gene is also known by other names, listed below.

What is the normal function of the FGA gene?

The FGA gene provides instructions for making a protein called the fibrinogen A alpha (Aα) chain, one piece (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, each produced from different genes. 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 the Bβ subunits of the functional fibrinogen protein (the pieces are called the A and B fibrinopeptides). 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.

Does the FGA gene share characteristics with other genes?

The FGA gene belongs to a family of genes called endogenous ligands (endogenous ligands).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the FGA gene related to health conditions?

congenital afibrinogenemia - caused by mutations in the FGA gene

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. Most FGA gene mutations that cause this condition lead to an abnormally short blueprint for protein formation (mRNA). 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. Without the Aα subunit, the fibrinogen protein is not assembled, which results in the absence of fibrin. Consequently, blood clots do not form in response to injury, leading to the excessive bleeding seen in people with congenital afibrinogenemia.

other disorders - caused by mutations in the FGA gene

Mutations in one or both copies of the FGA gene can cause other bleeding disorders known as hypofibrinogenemia, dysfibrinogenemia, or hypodysfibrinogenemia.

Hypofibrinogenemia is a condition characterized by decreased levels of fibrinogen in the blood. This condition is caused by mutations that reduce but do not eliminate the production of the fibrinogen Aα chain. People with hypofibrinogenemia can have bleeding problems that vary from mild to severe. Generally, the less fibrinogen in the blood, the more severe the bleeding problems are.

Dysfibrinogenemia is a condition characterized by abnormally functioning fibrinogen, although the protein is present at normal levels. This condition is usually caused by mutations that change a single protein building block (amino acid) in the fibrinogen Aα chain. These mutations alter the function of the fibrinogen protein and, depending on the functional change, can lead to excessive bleeding or abnormal blood clotting (thrombosis).

Hypodysfibrinogenemia is a condition characterized by low levels of abnormally functioning fibrinogen protein in the blood. As in dysfibrinogenemia, this condition can result in excessive bleeding or thrombosis.

Mutations in the FGA gene are also responsible for some cases of a condition called hereditary renal amyloidosis, which causes impairment of kidney (renal) function and leads to kidney failure. This condition is characterized by the accumulation of protein clumps called amyloid deposits in the kidneys. When the condition is caused by FGA gene mutations, the amyloid deposits are made up of abnormal fibrinogen Aα chain proteins, and the condition is sometimes called fibrinogen amyloidosis. The mutations involved in this condition typically change a single amino acid in the fibrinogen Aα chain and do not seem to affect fibrinogen's clotting activity.

Where is the FGA gene located?

Cytogenetic Location: 4q28

Molecular Location on chromosome 4: base pairs 154,583,127 to 154,590,744

The FGA gene is located on the long (q) arm of chromosome 4 at position 28.

The FGA gene is located on the long (q) arm of chromosome 4 at position 28.

More precisely, the FGA gene is located from base pair 154,583,127 to base pair 154,590,744 on chromosome 4.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about FGA?

You and your healthcare professional may find the following resources about FGA helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the FGA gene or gene products?

  • Fib2
  • FIBA_HUMAN
  • fibrinogen, A alpha polypeptide
  • fibrinogen alpha chain isoform alpha-E preproprotein
  • fibrinogen alpha chain isoform alpha preproprotein

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding FGA?

amino acid ; amyloid ; amyloidosis ; blood clotting ; clotting ; coagulation ; congenital ; fibrin ; fibrinogen ; gene ; hereditary ; injury ; kidney ; mRNA ; protein ; renal ; subunit ; thrombin ; thrombosis

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R. Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. Nat Genet. 1993 Mar;3(3):252-5. (http://www.ncbi.nlm.nih.gov/pubmed/8097946?dopt=Abstract)
  • OMIM: FIBRINOGEN, A ALPHA POLYPEPTIDE (http://omim.org/entry/134820)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2243)
  • Neerman-Arbez M, de Moerloose P, Bridel C, Honsberger A, Schönbörner A, Rossier C, Peerlinck K, Claeyssens S, Di Michele D, d'Oiron R, Dreyfus M, Laubriat-Bianchin M, Dieval J, Antonarakis SE, Morris MA. Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia. Blood. 2000 Jul 1;96(1):149-52. (http://www.ncbi.nlm.nih.gov/pubmed/10891444?dopt=Abstract)
  • Neerman-Arbez M, de Moerloose P, Honsberger A, Parlier G, Arnuti B, Biron C, Borg JY, Eber S, Meili E, Peter-Salonen K, Ripoll L, Vervel C, d'Oiron R, Staeger P, Antonarakis SE, Morris MA. Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes. Hum Genet. 2001 Mar;108(3):237-40. (http://www.ncbi.nlm.nih.gov/pubmed/11354637?dopt=Abstract)
  • Neerman-Arbez M, Honsberger A, Antonarakis SE, Morris MA. Deletion of the fibrinogen [correction of fibrogen] alpha-chain gene (FGA) causes congenital afibrogenemia. J Clin Invest. 1999 Jan;103(2):215-8. Erratum in: J Clin Invest 1999 Mar;103(5):759. (http://www.ncbi.nlm.nih.gov/pubmed/9916133?dopt=Abstract)
  • Neerman-Arbez M. Molecular basis of fibrinogen deficiency. Pathophysiol Haemost Thromb. 2006;35(1-2):187-98. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16855369?dopt=Abstract)
  • Picken MM, Linke RP. Nephrotic syndrome due to an amyloidogenic mutation in fibrinogen A alpha chain. J Am Soc Nephrol. 2009 Aug;20(8):1681-5. doi: 10.1681/ASN.2008070813. Epub 2008 Dec 17. (http://www.ncbi.nlm.nih.gov/pubmed/19092118?dopt=Abstract)
  • Uemichi T, Liepnieks JJ, Benson MD. Hereditary renal amyloidosis with a novel variant fibrinogen. J Clin Invest. 1994 Feb;93(2):731-6. (http://www.ncbi.nlm.nih.gov/pubmed/8113408?dopt=Abstract)
  • Weisel JW. Fibrinogen and fibrin. Adv Protein Chem. 2005;70:247-99. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15837518?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2012
Published: September 15, 2014