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Table 1 Molecular function of ICL repair factors linked to human disorders

From: Mechanisms of interstrand DNA crosslink repair and human disorders

Gene (also known as) Biochemical functions Disorders References
FANCA FA core complex FA [57]
FANCB FA core complex FA [58]
FANCC FA core complex FA [59]
FANCD1 (BRCA2) HR FA, HBOC [60]
FANCD2 FAN1 recruitment FA [61]
FANCE FA core complex FA [62, 63]
FANCF FA core complex FA [64]
FANCG FA core complex FA [65]
FANCI FAN1 recruitment FA [66, 67]
FANCJ (BRIP1) HR, Chromatin remodeling factor FA, HBOC [68, 69]
FANCL Ubiquitin ligase FA [70]
FANCN (PALB2) HR FA, HBOC [71, 72]
FANCO (RAD51C) HR FA, HBOC [73, 74]
FANCP (SLX4) Structure-specific endonuclease FA [75]
FANCQ (XPF) NER, Structure-specific endonuclease FA, XP, CS, COFS [7678]
FANCS (BRCA1) HR, Chromatin remodeling factor FA, HBOC [79]
FANCT (UBE2T) E2 ubiquitin conjugating enzyme FA [80]
ERCC1 NER, Structure-specific endonuclease COFS [81]
XPA NER XP [82]
XPB NER, Helicase in TFIIH XP, CS, TTD [8385]
XPC NER XP [86]
XPD NER, Helicase in TFIIH XP, CS, TTD, COFS [8789]
XPE NER XP [90]
XPG NER XP, CS [91, 92]
CSA NER CS [93]
CSB NER CS, COFS [94]
TTDA (p8) NER, a component of TFIIH TTD [95]
  1. HR factor in homologous recombination, NER factor in nucleotide excision repair
  2. HBOC Hereditary breast and/or ovary cancer syndrome
  3. FA Fanconi anemia, COFS Cerebro-oculo-facio-skeletal syndrome
  4. XP Xeroderma pigmentosum, CS Cockayne syndrome, TTD Trichothiodystropy