FGA fibrinogen alpha chain
Gene ID: 2243, updated on 17-Aug-2024Gene type: protein coding
Also known as: Fib2; AMYLD2
- See all available tests in GTR for this gene
- Go to complete Gene record for FGA
- Go to Variation Viewer for FGA variants
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. [provided by RefSeq, Jan 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease. GeneReviews: Not available | |
| Congenital afibrinogenemia | See labs |
| Familial dysfibrinogenemia | See labs |
| Familial visceral amyloidosis, Ostertag type | See labs |
| Genetic predictors of fibrin D-dimer levels in healthy adults. GeneReviews: Not available | |
| Genetics of venous thrombosis: insights from a new genome wide association study. GeneReviews: Not available | |
| Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. GeneReviews: Not available |
Genomic context
- Location:
- 4q31.3
- Sequence:
- Chromosome: 4; NC_000004.12 (154583126..154590742, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FGA variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- A Database For Human Fibrinogen Variants
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FGA database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.