ERCC1
MIM.126380 19q13.2-q13.3
Nucleotide excision repair (NER system) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most notably ultraviolet photodimers.
Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two progeroid syndromes: Cockayne syndrome and trichothiodystrophy syndrome.
The heterodimer ERCC1-XPF is one of two endonucleases required for NER. Mutations in XPF are associated with mild XP and rarely with progeria.
Mutations in ERCC1 have been reported in (cerebrooculofacioskeletal syndrome 4) (cerebro-oculo-facio-skeletal syndrome 4) (COFS4). (17273966)
Pathology
germline mutations in ERCC1
- cerebrooculofacioskeletal syndrome 4 (cerebro-oculo-facio-skeletal syndrome 4) (COFS4) (17273966)
See also
ERCCs
excision repair
References
Jaspers NG, Raams A, Silengo MC, Wijgers N, Niedernhofer LJ, Robinson AR, Giglia-Mari G, Hoogstraten D, Kleijer WJ, Hoeijmakers JH, Vermeulen W. First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. Am J Hum Genet. 2007 Mar;80(3):457-66. PMID: 17273966