LongevityMap variant

Entry Details

Longevity Association: Non-significant
Population: Danish
Study Design: 592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
Conclusions: The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.

HGNC symbol: ERCC1
Aliases: UV20; COFS4; RAD10
Common name: ERCC excision repair 1, endonuclease non-catalytic subunit
Description: 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]
Other longevity studies of this gene: 9
OMIM: 126380
Ensembl: ENSG00000012061
UniProt/Swiss-Prot: A0A024R0Q6_HUMAN
Entrez Gene: 2067
UniGene: 435981
HapMap: View on HapMap

GenAge model organism genes

GenAge human genes

CellAge

Debrabant et al. (2014)