| 1312517 | ERCC4 | ERCC excision repair 4, endonuclease catalytic subunit | The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation grou p F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009] | 16 | 13920154 | 13952348 | Human | 599 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 16563618 | AC010401.1 | novel transcript, antisense to ERCC4 | | | | | Human | | name | gene, lncrna |
| 1315921 | ERCC1 | ERCC excision repair 1, endonuclease non-catalytic subunit | 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 ... (more) an style='font-weight:700;'>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] | 19 | 45407334 | 45451547 | Human | 511 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1323679 | MUS81 | MUS81 structure-specific endonuclease subunit | This gene encodes a structure-specific endonuclease which belongs to the XPF/MUS81 endonuclease family and plays a critical role in the resolution of recombination intermediates during DNA repair after inter-strand cross-links, replication fork collapse, and DNA double-strand breaks. The encoded pro tein associates with one of two closely related essential meiotic endonuclease proteins (EME1 or EME2) to form a complex that processes DNA secondary structures. It contains an N-terminal DEAH helicase domain, an excision repair cross complementation group 4 (ERCC4) endonuclease domain, and two tandem C-terminal helix-hairpin-helix domains. Mice with a homozygous knockout of the orthologous gene have significant meiotic defects including the failure to repair a subset of DNA double strand breaks. [provided by RefSeq, Jun 2017] | 11 | 65859674 | 65867653 | Human | 125 | description | gene, protein-coding, REVIEWED [RefSeq] |