ERCC4 Antibody – Mouse Monoclonal

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]

ERCC4: 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.

Protein type: EC 3.1.-.-; DNA repair, damage; Deoxyribonuclease

Chromosomal Location of Human Ortholog: 16p13.12

Cellular Component: nucleoplasm; transcription factor TFIID complex; nucleotide-excision repair complex; chromosome, telomeric region; nuclear chromosome, telomeric region; nucleus

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; 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

Disease: Fanconi Anemia, Complementation Group Q; Xeroderma Pigmentosum, Complementation Group F; Xfe Progeroid Syndrome; Tracheoesophageal Fistula With Or Without Esophageal Atresia