ERCC1
DNA excision repair protein ERCC-1 is a protein that in humans is encoded by the "ERCC1" gene. Together with ERCC4, ERCC1 forms the ERCC1-XPF enzyme complex that participates in DNA repair and DNA recombination.

Many aspects of these two gene products are described together here because they are partners during DNA repair. The ERCC1-XPF nuclease is an essential activity in the pathway of DNA nucleotide excision repair (NER). The ERCC1-XPF nuclease also functions in pathways to repair double-strand breaks in DNA, and in the repair of “crosslink” damage that harmfully links the two DNA strands.

Cells with disabling mutations in "ERCC1" are more sensitive than normal to particular DNA damaging agents, including ultraviolet (UV) radiation and to chemicals that cause crosslinking between DNA strands. Genetically engineered mice with disabling mutations in ERCC1 have defects in DNA repair, accompanied by metabolic stress-induced changes in physiology that result in premature aging. Complete deletion of ERCC1 is incompatible with viability of mice, and no human individuals have been found with complete (homozygous) deletion of ERCC1. Rare individuals in the human population harbor inherited mutations that impair the function of ERCC1. When the normal genes are absent, these mutations can lead to human syndromes, including Cockayne syndrome (CS) and COFS.

"ERCC1" and "ERCC4" are the gene names assigned in mammalian genomes, including the human genome ("Homo sapiens"). Similar genes with similar functions are found in all eukaryotic organisms.
Q8054
protein
Concept
Q7187
gene
Concept
Q17917469
ERCC4
MISC
Q210538
DNA repair
Concept
Q211675
DNA recombination
Concept
Q7187
gene
Concept
Q2714458
nucleotide excision repair
Concept
Q210538
double-strand breaks
Concept
Q914389
Cockayne syndrome
Concept
None
COFS
UNK
Q17917256
ERCC1
MISC
Q17917256
ERCC1
MISC
Q17917256
ERCC1
MISC
Q17917256
ERCC1
MISC
Q17917256
ERCC1
MISC
Q17917256
ERCC1
MISC
Q17917256
ERCC1
MISC
Q17917256
ERCC1
MISC
Q17917256
ERCC1
MISC
Q17917256
ERCC1
MISC
Q17917256
ERCC1
MISC
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encodes