ERCC4

The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]

ERCC Excision Repair 4, Endonuclease Catalytic Subunit

Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.

Cellular response to UV Source: BHF-UCL
DNA repair Source: UniProtKB
Double-strand break repair via homologous recombination Source: UniProtKB
Double-strand break repair via nonhomologous end joining Source: BHF-UCL
Negative regulation of double-stranded telomeric DNA binding Source: BHF-UCL
Negative regulation of protection from non-homologous end joining at telomere Source: BHF-UCL
Negative regulation of telomerase activity Source: GOC
Negative regulation of telomere maintenance Source: UniProtKB
Negative regulation of telomere maintenance via telomere lengthening Source: BHF-UCL
Nucleotide-excision repair Source: MGI
Nucleotide-excision repair, DNA incision Source: UniProtKB
Nucleotide-excision repair, DNA incision, 3'-to lesion Source: UniProtKB
Nucleotide-excision repair, DNA incision, 5'-to lesion Source: UniProtKB
Nucleotide-excision repair involved in interstrand cross-link repair Source: GO_Central
Regulation of autophagy Source: Ensembl
Resolution of meiotic recombination intermediates Source: GO_Central
Response to UV Source: UniProtKB
Telomere maintenance Source: BHF-UCL
Telomeric DNA-containing double minutes formation Source: BHF-UCL
UV protection Source: Ensembl

Nucleus

Xeroderma pigmentosum complementation group F (XP-F):
An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype.
XFE progeroid syndrome (XFEPS):
A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment.
Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS):
A variant form of Cockayne syndrome, a disorder characterized by growth retardation, microcephaly, impairment of nervous system development, pigmentary retinopathy, peculiar facies, and progeria together with abnormal skin photosensitivity. Cockayne syndrome dermatological features are milder than those in xeroderma pigmentosum and skin cancers are not found in affected individuals. XPF/CS patients, however, present with severe skin phenotypes, including severe photosensitivity, abnormal skin pigmentation, and skin cancer predisposition.
Fanconi anemia complementation group Q (FANCQ):
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.