Table 1.
Complementation Groups of Fanconi Anemia
| Subtype | FA gene | Chromosome location | Protein (kD) | Patients with FA, estimated (%) | Main function of the protein, etc. |
|---|---|---|---|---|---|
| A | FANCA | 16q24.3 | 163 | 57 | FA core complex |
| B | FANCB (FAAP95) | Xp22.2 | 95 | 0.3 | FA core complex |
| C | FANCC | 9q22.3 | 63 | 15 | FA core complex |
| D1 | FANCD1 | 13q12.3 | 380 | 4 | RAD51 recruitment |
| D2 | FANCD2 | 3p26 | 155, 162 | 3 | Monoubiquitylated protein |
| E | FANCE | 6p22-p21 | 60 | 1 | FA core complex |
| F | FANCF | 11p15 | 42 | 2 | FA core complex |
| G | FANCG/XRCC9 | 9p13 | 68 | 9 | FA core complex |
| I | Unknown | 15q26.1 | ? | Rare | ? |
| J | FANCJ/BACH1/BRIP1 | 17q22-q24 | 130 | 1.6 | 5′ > 3′ DNA helicase/ATPase |
| L | FANCL/PHF9/POG (FAAP43) | 17q22-q24 | 43 | 0.1 | FA core complex, ubiquitin ligase |
| M | FANCM | 14q21.3 | 250 | Rare | FA core complex, ATPase/translocase |
| N | FANCN/PALB2 | 16p12.1 | 130 | 1 | Regulation of BRCA2 location |