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
No homologs found