FANCA FA complementation group A
Gene ID: 2175, updated on 10-Dec-2024Gene type: protein coding
Also known as: FA; FA1; FAA; FAH; FA-H; FACA; FANCH
- See all available tests in GTR for this gene
- Go to complete Gene record for FANCA
- Go to Variation Viewer for FANCA variants
Summary
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. GeneReviews: Not available | |
| Fanconi anemia complementation group A | See labs |
| Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption. GeneReviews: Not available | |
| Web-based, participant-driven studies yield novel genetic associations for common traits. GeneReviews: Not available |
Genomic context
- Location:
- 16q24.3
- Sequence:
- Chromosome: 16; NC_000016.10 (89737549..89816647, complement)
- Total number of exons:
- 44
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FANCA variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Fanconi Anemia Mutation Database (FANCA)
- 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
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