Table 1.
Fanconi anemia complementation groups, genes, and proteins.
| Group | Gene symbol(s)a | Cytogenetic location | Protein (amino acids) | Domain structure (references) |
|---|---|---|---|---|
| A | FANCA | 16q24.3 | 1455 | HEAT repeats [8] |
| B | FANCB | Xp22.31 | 859 | — |
| C | FANCC | 9q22.3 | 558 | HEAT repeats [8] |
| D1 b | BRCA2 | 13q12.3 | 3418 | RAD51- and DNA-binding motifs [9] |
| D2 | FANCD2 | 3p25.3 | 1451 | — |
| E | FANCE | 6p21.3 | 536 | — |
| F | FANCF | 11p15 | 374 | — |
| G | FANCG | 9p13 | 622 | Tetratricopeptide repeats (TPR) [10] |
| I | FANCI | 15q26.1 | 1328 | — |
| J b | BRIP1 | 17q22 | 1249 | DNA helicase [11, 12] |
| L | FANCL | 2p16.1 | 375 | RING finger motif (E3 ligase) [7, 8] |
| M | FANCM | 14q21.3 | 2014 | DNA helicase, nuclease [13] |
| N b | PALB2 | 16p12.1 | 1186 | — |
| O b | RAD51C | 17q25.1 | 376 | — |
| P b | SLX4 | 16p13.3 | 1834 | Endonuclease scaffold [3, 4] |
aFor gene nomenclature see http://www.genenames.org/.
bThe proteins defective in groups D1, J, N, O, and P (boldface) act downstream or independent of the monoubiquitination of FANCD2; all other FA proteins act upstream of this process.