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. Defects in ERCC4 are the cause of xeroderma pigmentosum complementation group F (XP-F); also known as xeroderma pigmentosum VI (XP6). XP-F is an autosomal recessive disease characterized by hypersensitivity of the skin to sunlight followed by high incidence of skin cancer and frequent neurologic abnormalities. Defects in ERCC4 are a cause of XFE progeroid syndrome (XFEPS). This syndrome is illustrated by one patient who presented with dwarfism, cachexia and microcephaly. Belongs to the XPF family. Note: This description may include information from UniProtKB.
Protein type: EC 3.1.-.-; Deoxyribonuclease; DNA repair, damage
Molecular Function: protein C-terminus binding; protein binding; structure-specific DNA binding; single-stranded DNA specific endodeoxyribonuclease activity; damaged DNA binding; protein N-terminus binding; single-stranded DNA binding; endodeoxyribonuclease activity
Biological Process: nucleotide-excision repair, DNA incision; DNA repair; DNA catabolic process, endonucleolytic; double-strand break repair via homologous recombination; meiotic mismatch repair; negative regulation of telomere maintenance; nucleotide-excision repair, DNA incision, 3'-to lesion; UV protection; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; resolution of meiotic joint molecules as recombinants; nucleotide-excision repair, DNA damage removal; telomere maintenance; nucleotide-excision repair, DNA incision, 5'-to lesion; response to UV
Alt. Names/Synonyms: DNA excision repair protein ERCC-4; DNA repair endonuclease XPF; DNA repair protein complementing XP-F cells; ERCC11; ERCC4; excision repair cross-complementing rodent repair deficiency, complementation group 4; excision-repair, complementing defective, in Chinese hamster; RAD1; Xeroderma pigmentosum group F-complementing protein; xeroderma pigmentosum, complementation group F; XPF
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.