Gene: XRCC1

Alternate names for this Gene: RCC|SCAR26

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.31

Description of this Gene: X-ray repair cross complementing 1

Type of Gene: protein-coding

rs761564262 in XRCC1 gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 PMID 28002403 2017 XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.

rs2307184 in XRCC1 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.