LongevityMap Gene

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]
Cytogenetic Location
19q13.31
UCSC Genome Browser
View 19q13.31 on the UCSC genome browser
OMIM
194360
Ensembl
ENSG00000073050
UniProt/Swiss-Prot
B2RCY5_HUMAN
Entrez Gene
7515
UniGene
98493
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
xrcc1
Mus musculus
Xrcc1
Rattus norvegicus
Xrcc1

Studies (2)

Significant/Non-significant: 0/2

Study 1

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
Indentifier
R194W
Reference

    Study 2

    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.
    Indentifier
    rs25487
    Reference