ERCC1, Official Symbol ERCC1provided by HGNC Official Full Name ERCC excision repair 1, endonuclease non-catalytic subunitprovided by HGNC Primary source HGNC:HGNC:3433 See related Ensembl:ENSG00000012061 MIM:126380; AllianceGenome:HGNC:3433 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as UV20; COFS4; RAD10 Summary The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA 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 DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA 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] Expression Ubiquitous expression in skin (RPKM 11.1), ovary (RPKM 9.5) and 25 other tissues See more Orthologs mouse all