LongevityMap variant

Entry Details

Longevity Association: Significant
Population: Polish
Study Design: Analysis was performed in 149 centenarians (mean age 101.1 years old) and in 413 young subjects (mean age 27.1 years old).
Conclusions: The distribution of the Lys751Gln genotypes differed significantly between these groups (P = 0.017). In centenarians, the homozygous genotypes AA and CC were found less frequently than in young controls (29 vs. 36%, OR = 0.71, and 14 vs. 20%, OR = 0.652, respectively). The Arg156Arg and Asp312Asn were not significantly associated with extreme longevity.

HGNC symbol: ERCC2
Aliases: EM9; TTD; XPD; TTD1; COFS2; TFIIH
Common name: ERCC excision repair 2, TFIIH core complex helicase subunit
Description: The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Other longevity studies of this gene: 17
OMIM: 126340
Ensembl: ENSG00000104884
UniProt/Swiss-Prot: ERCC2_HUMAN
Entrez Gene: 2068
UniGene: 487294
HapMap: View on HapMap

GenAge model organism genes

GenAge human genes

Polosak et al. (2010)