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). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site.
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Western blot analysis of extracts on Hela, 293T cells, using XRCC4 Mouse Monoclonal Antibody (EAB14645) at 1:3000 dilution. Secondary antibody Goat Anti-Mouse IgG (H&L)-HRP (EAB21001) at 1:5000 dilution.
Immunohistochemical analysis of paraffin-embedded Human breast caricnoma tissue., using XRCC4 Mouse Monoclonal Antibody (EAB14645) at 1:500 dilution.