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Symbol XRCC1 contributors: shn/npt/pgu - updated : 19-10-2018
HGNC name X-ray repair complementing defective repair in Chinese hamster cells 1
HGNC id 12828
corresponding disease(s) SCAR26
  • to squamous cell carcinoma of the head and neck and for tabacco and age related DNA damage
  • to gastric cancer
  • to breast cancer
  • to glioma
  • to testicular germ cell tumors
  • to development of childhood ALL
  • to systemic lupus erythematosus (SLE)
  • Variant & Polymorphism SNP , other
  • A194T increasing the risk of squamous cell carcinoma of the head and neck
  • haplotype D (194Arg, 280Arg, and 399Arg alleles) is a risk type for gastric cancer
  • polymorphisms at the codon 194 and 399 increasing the risk of breast cancer
  • polymorphisms associated with the susceptibility and chromosomal aberration of testicular germ cell tumors
  • may be associated with the progression of primary open-angle glaucoma in male patients of Pakistani origin (
  • EPHX1 Tyr113His polymorphism together with DNA protein XRCC1 Arg399Gln variant known for its deficient DNA repair capacity would represent more prominent risk factors for the development of childhood ALL
  • XRCC1 Arg399Gln polymorphism might be associated with genetic susceptibility to SLE
  • XRCC1 399Gln and 194Trp variants increase glioma risk
  • Candidate gene
    Therapy target
  • Xrcc1 null mice are morphologically abnormal (increased cell death in the epiblast and an altered morphology in the visceral embryonic endoderm) and die around embryonic day 7
  • mice with neural-specific inactivation of Xrcc1 exhibit profound neuropathology characterized by loss of cerebellar interneurons and persistence of DNA strand breaks throughout the nervous system and abnormal hippocampal function