Twelve complementation groups and responsible genes for Fanconi anemia
Subtype . | Responsible gene . | Patients with FA, estimated, %* . | Chromosome location . | Protein, kDa . | Requirement for FANCD2 monoubiquitination . | Main function of the protein . | Comments . |
|---|---|---|---|---|---|---|---|
| A | FANCA | 57 | 16q24.3 | 163 | + | FA core complex | NA |
| B | FANCB (FAAP95) | 0.3 | Xp22.31 | 95 | + | FA core complex | NA |
| C | FANCC | 15 | 9q22.3 | 63 | + | FA core complex | Cytoplasmic functions |
| D1 | FANCD1/BRCA2 | 4 | 13q12-13 | 380 | - | RAD51 recruitment | NA |
| D2 | FANCD2 | 3 | 3p25.3 | 155, 162 | + | ? | Monoubiquitinated protein |
| E | FANCE | 1 | 6p21-22 | 60 | + | FA core complex | Direct binding to FANCD2 |
| F | FANCF | 2 | 11p15 | 42 | + | FA core complex | NA |
| G | FANCG/XRCC9 | 9 | 9p13 | 68 | + | FA core complex | NA |
| I | Not identified | Rare | ? | ? | + | ? | NA |
| J | FANCJ/BACH1/BRIP1 | 1.6 | 17q22-q24 | 130 | - | 5′>3′ DNA helicase/ATPase | Binding to BRCA1 |
| L | FANCL/PHF9/POG (FAAP43) | 0.1 | 2p16.1 | 43 | + | FA core complex, ubiquitin ligase | NA |
| M | FANCM/Hef (FAAP250) | Rare | 14q21.3 | 250 | + | FA core complex, ATPase/translocase | Helicase/nuclease motif |
Subtype . | Responsible gene . | Patients with FA, estimated, %* . | Chromosome location . | Protein, kDa . | Requirement for FANCD2 monoubiquitination . | Main function of the protein . | Comments . |
|---|---|---|---|---|---|---|---|
| A | FANCA | 57 | 16q24.3 | 163 | + | FA core complex | NA |
| B | FANCB (FAAP95) | 0.3 | Xp22.31 | 95 | + | FA core complex | NA |
| C | FANCC | 15 | 9q22.3 | 63 | + | FA core complex | Cytoplasmic functions |
| D1 | FANCD1/BRCA2 | 4 | 13q12-13 | 380 | - | RAD51 recruitment | NA |
| D2 | FANCD2 | 3 | 3p25.3 | 155, 162 | + | ? | Monoubiquitinated protein |
| E | FANCE | 1 | 6p21-22 | 60 | + | FA core complex | Direct binding to FANCD2 |
| F | FANCF | 2 | 11p15 | 42 | + | FA core complex | NA |
| G | FANCG/XRCC9 | 9 | 9p13 | 68 | + | FA core complex | NA |
| I | Not identified | Rare | ? | ? | + | ? | NA |
| J | FANCJ/BACH1/BRIP1 | 1.6 | 17q22-q24 | 130 | - | 5′>3′ DNA helicase/ATPase | Binding to BRCA1 |
| L | FANCL/PHF9/POG (FAAP43) | 0.1 | 2p16.1 | 43 | + | FA core complex, ubiquitin ligase | NA |
| M | FANCM/Hef (FAAP250) | Rare | 14q21.3 | 250 | + | FA core complex, ATPase/translocase | Helicase/nuclease motif |
+ indicates that the gene is required for FANCD2 monoubiquitination; NA, not applicable; -, gene not required for FANCD2 monoubiquitination; ?, unknown.
Unpublished data from the International Fanconi Anemia Registry (IFAR) (kindly provided by Dr Arleen D. Auerbach).