Table 2.
Group | Gene | Chromosome | MW (kDa) | Motifs | Percent of FA patients | Necessary for FANCD2-ub |
---|---|---|---|---|---|---|
A | FANCA | 16q24.3 | 163 | 2 NLSs, 5 NESs | 60-70 | Yes |
B | FANCB | Xp22.31 | 95 | NLS | 2 | Yes |
C | FANCC | 9q22.3 | 63 | None | 14 | Yes |
D1 | FANCD1/BRCA2 | 13q12.13 | 380 | 8 BRC repeats, HD, 3 OBs, TD | 3 | No |
D2 | FANCD2 | 3p25.3 | 155, 162 | None | 3 | Yes |
E | FANCE | 6p21-22 | 60 | 2 NLSs | 3 | Yes |
F | FANCF | 11p15 | 42 | None | 2 | Yes |
G | FANCG/XRCC9 | 9p13 | 68 | 7 TPRs | 10 | Yes |
I | FANCI/KIAA1794 | 15q25-26 | 146 | None | 1 | Yes |
J | FANCJ/BRIP1/BACH1 | 17q22-24 | 130 | ATPase, 7 helicase motifs | 2 | No |
L | FANCL/PHF9 | 2p16.1 | 43 | 3 WD40s, PHD | 0.2 | Yes |
M | FANCM | 14q21.3 | 250 | 7 helicase motifs, degenerate endonuclease domain, ATPase | 0.2 | Yes |
N | FANCN/PALB2 | 16p12 | 130 | 2 WD40s | 0.7 | No |
O | FANCO/RAD51C | 17q25.1 | 42 | RAD51 paralog/recombinase | 0.2 | No |
P | FANCP/SLX4 | 16p13.3 | 200 | Endonuclease assembly | 0.2 | No |
Q | FANCQ/ERCC4/XPF | 16p13.12 | 101 | Endonuclease | 0.5-1.0 | No |
HD, helical domain; MW, molecular weight; NES, nuclear export signal; NLS, nuclear localization sequence; OB, oligonucleotide binding; PHD, plant homeo domain; TD, tower domain; TPR, tetratricopeptide repeat.