Table 1. COMPLEMENTATION GROUPS AND INTERACTION PROTEINS OF FANCONI ANEMIA.
Subtype |
Chromosome Location |
Protein Products (kd) |
Functions |
Ref |
---|---|---|---|---|
A | 16q24.3 | 163 (FANCA) | FA core complex | 6 |
B | Xp22.31 | 95 (FAAP95) | FA core complex | 13 |
C | 9q22.3 | 63 (FANCC) | FA core complex | 5 |
D1 | 13q12-13 | 380 (BRCA2) | RAD51 recruitment | 11 |
D2 | 3p25.3 | 155,162 (FANCD2) | Involved in DNA damage repair | 4 |
E | 6p21-22 | 60 (FANCE) | FA core complex | 9 |
F | 11p15 | 42 (FANCF) | FA core complex | 8 |
G | 9p13 | 68 (FANCG/XRCC9) | FA core complex | 7 |
I | 15q25-16 | 140 (FANCI/KIAA1794) | Required for maintenance of chromosomal stability | 10, 18 |
J | 17q22-q24 | 140 (FANCJ/BACH1/BRIP1) | 5′>3′ DNA helicase/ATPase | 15 |
L | 2p16.1 | 43(FANCL/PHF9/POG) | FA core complex, FAAP43 ubiqutin ligase | 12 |
M | 14q21.3 | 250 (FANCM) | FA core complex/ATPase/translocase | 14 |
N | 16p12.1 | 130 (FANCN/PALB2) | Regulation of BRCA2 location | 16; 17 |
O | 17q25.1 | 42 (FANCO/RAD51C) | Involved in HRR of DSB | 19; 20; 21 |
P | 16p13.3 | 200 (FANCP/SLX4) | Protect genome stability | 22 |
Q | 16p13.12 | 101 (FANCQ/ERCC4/XPF) | Required for ICL repair | 23 |
FAAP100 | 17q25.1 | 100 | Required for D2 mono-Ub | 36 |
FAAP24 | 19q13.11 | 24 | Required for D2 mono-Ub | 28 |
FAAP20 | 22q12 | 20 | Required for D2 mono-Ub | 34 |
HES1 | 3q28-q29 | 30 | FA-associated factor | 35 |
MHF1 | 1p26.22 | 16 | FANCM-associated protein | 33 |
MHF2 | 17q25.3 | 10 | FANCM-associated protein | 33 |