ERCC1
Description
The ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit) is a protein-coding gene located on chromosome 19.
ERCC1 is a human gene that encodes a protein involved in DNA repair and recombination. The protein forms a complex with ERCC4 (XPF), creating the ERCC1-XPF enzyme complex. This complex is essential for DNA nucleotide excision repair (NER) and plays roles in repairing double-strand breaks and crosslink damage. Mutations in ERCC1 make cells more sensitive to DNA damage, like UV radiation and crosslinking agents. Mice with ERCC1 mutations have DNA repair defects and premature aging, highlighting its importance in maintaining genomic stability. Complete ERCC1 deletion is lethal in mice, and homozygous deletions are extremely rare in humans. However, inherited mutations in ERCC1 can lead to human syndromes like Cockayne syndrome (CS) and COFS.
ERCC1 isoform 1 is a non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. It plays a role in the repair of interstrand cross-links (ICL) in conjunction with SLX4, the processing of anaphase bridge-generating DNA structures, and homology-directed repair (HDR) of DNA double-strand breaks, again in conjunction with SLX4.
ERCC1 is also known as COFS4, RAD10, UV20.
