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: ERCC5
Aliases: XPG; UVDR; XPGC; COFS3; ERCM2; ERCC5-201
Common name: ERCC excision repair 5, endonuclease
Description: This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
Other longevity studies of this gene: 17
OMIM: 133530
Ensembl: ENSG00000134899
UniProt/Swiss-Prot: ERCC5_HUMAN
Entrez Gene: 2073
UniGene: 258429
HapMap: View on HapMap

GenAge human genes

Debrabant et al. (2014)