- HGNC symbol
- FA; FA1; FAA; FAH; FA-H; FACA; FANCH
- Common name
- Fanconi anemia complementation group A
- 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]
- Cytogenetic Location
- UCSC Genome Browser
- View 16q24.3 on the UCSC genome browser
- Entrez Gene
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Longevity Association
- Study Design
- 592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
- The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.