ERCC4 is a protein designated as DNA repair endonuclease XPF that in humans is encoded by the ERCC4 gene. Together with ERCC1 , ERCC4 forms the ERCC1-XPF enzyme complex that participates in DNA repair and DNA recombination .

2024年12月25日 · ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit) is a Protein Coding gene. Diseases associated with ERCC4 include Fanconi Anemia, Complementation Group Q and Xfe Progeroid Syndrome. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and DNA repair pathways, full …

ERCC4 is located on human chromosome 16p13.12 and consists of 11 exons spanning about 28.2 kb, the broad tissue expression pattern of ERCC4 is similar to that of ERCC1; ERCC1 and ERCC4 genes encode the two subunits of the ERCC1-XPF nuclease. This enzyme plays an important role in repair of DNA damage and in maintaining genomic stability. [Review]

The ERCC1 and ERCC4 genes encode the two subunits of the ERCC1–XPF nuclease. This enzyme plays an important role in repair of DNA damage and in maintaining genomic stability. ERCC1–XPF nuclease nicks DNA specifically at junctions between ...

ERCC4 (XPF) encodes a protein that forms a complex with ERCC1 and is required for the 5' incision during nucleotide excision repair. ERCC4 is also FANCQ, illustrating a critical role in interstrand crosslink repair.

2013年5月2日 · Here, we used whole-exome and Sanger sequencing on DNA of unclassified FA individuals and discovered biallelic germline mutations in ERCC4 (XPF), a structure-specific nuclease-encoding gene previously connected to xeroderma pigmentosum and segmental XFE progeroid syndrome.

2024年10月10日 · Go to Variation Viewer for ERCC4 variants Summary The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair.

2015年9月15日 · The ERCC1 and ERCC4 genes encode the two subunits of the ERCC1-XPF nuclease. This enzyme plays an important role in repair of DNA damage and in maintaining genomic stability. ERCC1-XPF nuclease nicks DNA specifically at junctions between double-stranded and single-stranded DNA, when the single-stran …

ERCC4 is an essential human gene in the nucleotide excision repair (NER) pathway, which is responsible for removing UV-C photoproducts and bulky adducts from DNA. Among the NER genes, ERCC4 and ERCC1 are also uniquely involved in …

2019年4月3日 · The ERCC4 gene encodes a protein that together with ERCC1 make up the ERCC1-XPF 5-prime endonuclease. The XPF/ERCC1 endonuclease also plays a role in interstrand crosslink (ICL) DNA repair (summary by Gregg et al., 2011 and Bogliolo et al., 2013 ).