Table 1.
Fanconi anemia genes involved in FA/BRCA pathway 1.
| FANC Gene/Alias | Cytogenetic Location | Function of the FANC Protein |
|---|---|---|
| FANCA | 16q24.3 | FA core complex |
| FANCB | Xp22.2 | FA core complex |
| FANCC | 9q22.32 | FA core complex |
| FANCD1/BRCA2 | 13q13.1 | Homologous recombination. Enable RAD51 to displace RPA from ssDNA. |
| FANCD2 | 3p25.3 | Monoubiquitinated ID complex recruits the downstream repair proteins and facilitates repair of DNA ICLs |
| FANCE | 6p21.31 | FA core complex; bridge between the FA core complex and FANCD2 |
| FANCF | 11p14.3 | FA core complex |
| FANCG/XRCC9 | 9p13.3 | FA core complex |
| FANCI | 15q26.1 | Monoubiquitinated ID complex recruits the downstream repair proteins and facilitates repair of DNA ICLs |
| FANCJ/BRIP1 | 17q23.2 | FA core complex |
| FANCL | 2p16.1 | E3 ubiquitin-protein ligase, monoubiquitination of FANCD2 |
| 2 FANCM | 14q21.2 | FA core complex. Acts by sensing stalled fork by ICLs and recruiting the core complex proteins to the site of ICL |
| FANCN/PALB2 | 16q12.2 | Homologous recombination |
| 2 FANCO/RAD51C | 17q22 | Resolution of D-loop structures through Holliday Junction Intermediates and Homologous DNA Pairing and Strand Exchange. |
| FANCP/SLX4 | 16p13.3 | Cooperate with FANCQ-XPF to generate endonucleolytic incisions to unhook the ICL. |
| FANCQ/XPF | 16p13.12 | DNA endonuclease, involved in homologous recombination; responsible for 5′ incision to remove ICLs |
| 2 FANCR/RAD51 | 15q15.1 | Interact with the ssDNA-binding protein RPA, RAD52 homologous pairing and strand transfer of DNA |
| 2 FANCS/BRCA1 | 17q21.31 | Homologous recombination |
| FANCT/UBE2T | 1q32.1 | E2 ubiquitin-conjugating enzyme, associates with FA core complex, catalyzes monoubiquitination of FANCD2 in association with FANCL |
| FANCU/XRCC2 | 7q36.1 | Homologous recombination |
| FANCV/REV7 | 1p36.22 | Translesion DNA synthesis |
| FANCW/RFWD3 | 16q23.1 | RING-Type E3 Ubiquitin Transferase |