The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternative splicing generates several transcript variants.
Immunogen Information
Immunogen
Fusion protein of human XRCC4
Swissprot
Q13426
Synonyms
DNA double strand break repair and V(D)J recombination protein XRCC4DNA repair protein XRCC4SSMEDX ray repair complementing defective repair in Chinese hamster cells 4X ray repair cross complementing 4X ray repair cross complementing protein 4X-ray