LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
English
Study Design
R194W, R399Q and a [AC]n microsatellite in the 3' UTR polymorphisms were examined in a cohort of newborns (n=290) and a retired population (average age at sampling 70.02 years; n=430)
Conclusions
No evidence of association with longevity was found

Variants (2)

1.
Identifier
R194W
Cytogenetic Location
19q13.31
UCSC Genome Browser
View 19q13.31 on the UCSC genome browser
2.
Identifier
R399Q
Cytogenetic Location
19q13.31
UCSC Genome Browser
View 19q13.31 on the UCSC genome browser

Gene details

HGNC symbol
XRCC1
Aliases
RCC 
Common name
X-ray repair cross complementing 1 
Description
The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
11
OMIM
194360
Ensembl
ENSG00000073050
UniProt/Swiss-Prot
B2RCY5_HUMAN
Entrez Gene
7515
UniGene
98493
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
xrcc1
Mus musculus
Xrcc1
Rattus norvegicus
Xrcc1

References

Wilding et al. (2006)

Other variants which are also part of this study