Gene | Chromosomal location | OMIM | Frequency within patients with XP | Protein function | Associated pathway | Associated syndrome(s) | Sunburn, photosensitivity | Neurologic defects |
XPA | 9q22.33 | 611153 | 30% | DNA repair coordination | TC-NER | XP | Severe | +/– |
XPB/ERCC3 | 2q14.3 | 133510 | 0.5% | 3'-5' helicase | TC-NER | XP, CS, TTD | Severe | + |
XPC | 3p25.1 | 613208 | 27% | DNA lesion recognition | GG-NER | XP | Mild | +/– |
XPD/ERCC2 | 19q13.3 | 126340 | 15% | 5'-3' helicase | TC-NER | XP, TTD, COFS syndrome, CS | Severe | +/– |
XPE/DDB2 | 11p11.2 | 600811 | 1% | DNA lesion recognition | GG-NER | XP | Mild | – |
XPF/ERCC4 | 16p13.12 | 133520 | 2% | 5' endonuclease heterodimer with ERCC1 | TC-NER | XP, XFE progeroid syndrome, CS, FA | Severe | +/– |
XPG/ERCC5 | 13q33.1 | 133530 | 1% | 3' endonuclease | TC-NER | XP, CS, COFS syndrome | Severe | +/– |
XPV/POLH | 6p21.1 | 603968 | 23.5% | Lesion bypass polymerase | TLS | XP | Mild | – |
ERCC1 | 19q13.32 | 126380 | <0.5% | 5' endonuclease heterodimer with XPF | TC-NER | XP, CS, COFS syndrome | Severe | + |
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