ERCC1
LOCUS ID2067
GENE_SYMBOLERCC1
GENE NAMEexcision repair cross-complementation group 1
SYNONYMNSUV20, COFS4, RAD10
CHROMOSOME19
HOMOLOGENE ID1501
microRNAsNANA
GENE SUMMARY
The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of D lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the D lesion. The heterodimeric endonuclease is also involved in recombinational D repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. ERCC1 and ERCC4 may play important roles in the development of diabetic retinopathy and nephropathy.23028342
Retinopathy1. ERCC1 and ERCC4 may play important roles in the development of diabetic retinopathy and nephropathy.22228707