Gene: FGA

Alternate names for this Gene: Fib2

Gene Summary: 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4q31.3

Description of this Gene: fibrinogen alpha chain

Type of Gene: protein-coding

rs121909612 in FGA gene and Amyloidosis, familial visceral PMID 8097946 1993 Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.

rs121909607 in FGA gene and Bleeding tendency PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs2070006 in FGA gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121909606 in FGA gene and Dysfibrinogenemia, Congenital PMID 8473507 1993 Molecular basis for fibrinogen Dusart (A alpha 554 Arg-->Cys) and its association with abnormal fibrin polymerization and thrombophilia.

PMID 16846481 2006 The fibrinogen Aalpha R16C mutation results in fibrinolytic resistance.

rs2070016 in FGA gene and Fibrinogen assay PMID 20978265 2011 Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe).

PMID 21757653 2011 Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease.

rs2070016 in FGA gene and Fibrinogen, CTCAE PMID 20978265 2011 Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe).

PMID 21757653 2011 Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease.

rs121909607 in FGA gene and Hypofibrinogenemia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs6050 in FGA gene and Venous Thromboembolism PMID 21980494 2011 Genetics of venous thrombosis: insights from a new genome wide association study.

rs6050 in FGA gene and Venous Thrombosis PMID 22675575 2012 Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis.

rs2070016 in FGA gene and fibrinogen activity PMID 20978265 2011 Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe).

PMID 21757653 2011 Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease.