XRCC1
LOCUS ID7515
GENE_SYMBOLXRCC1
GENE NAMEX-ray repair complementing defective repair in Chinese hamster cells 1
SYNONYMNSRCC
CHROMOSOME19
HOMOLOGENE ID31368
microRNAsNANA
GENE SUMMARY
The protein encoded by this gene is involved in the efficient repair of D single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with D ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in D 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]

OBSERVATIONS

Complication Evidence PMID
Cardiovascular1. Significant up-regulation of the MSH2 (2. 49-fold, P=0.001), XRCC1 (2. 11-fold, P=0.001) and ATM (2. 15-fold, P=0.003) genes was observed in patients with T2DM and CAD.26088318
Retinopathy1. The polymorphisms in the D repair genes PARP-1 and XRCC1 tended to associate significantly with DR. While Val762Ala polymorphism was associated with reduced susceptibility to DR, the Arg399Gln polymorphism contributed an elevated to risk for DR in South-Indian T2DM individuals.24621175
Nephropathy1. Polymorphic Gln allele of XRCC1 gene was significantly related with T2DM and DN.The results of this study suggest that XRCC1 399Gln polymorphism is related with an increased susceptibility to T2DM and DN in the studied Turkish population.30472145