Aliases for NHEJ1 Gene
External Ids for NHEJ1 Gene
Previous GeneCards Identifiers for NHEJ1 Gene
Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008]
GeneCards Summary for NHEJ1 Gene
NHEJ1 (Non-Homologous End Joining Factor 1) is a Protein Coding gene. Diseases associated with NHEJ1 include severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation and cernunnos-xlf deficiency. Among its related pathways are DNA Double-Strand Break Repair and DNA Double Strand Break Response.
UniProtKB/Swiss-Prot for NHEJ1 Gene
DNA repair protein involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. May serve as a bridge between XRCC4 and the other NHEJ factors located at DNA ends, or may participate in reconfiguration of the end bound NHEJ factors to allow XRCC4 access to the DNA termini. It may act in concert with XRCC6/XRCC5 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are noncomplementary or partially complementary (PubMed:16439204, PubMed:16439205, PubMed:17470781). Binds DNA in a length-dependent manner (PubMed:17317666).