Aliases for XRCC4 Gene
External Ids for XRCC4 Gene
Previous GeneCards Identifiers for XRCC4 Gene
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 break by non-homologous end joining and the completion of V(D)J recombination events. The non-homologous end-joining pathway is required both for normal development and for suppression of tumors. This gene functionally complements XR-1 Chinese hamster ovary cell mutant, which is impaired in DNA double-strand breaks produced by ionizing radiation and restriction enzymes. Alternative transcription initiation and alternative splicing generates several transcript variants. [provided by RefSeq, Sep 2008]
GeneCards Summary for XRCC4 Gene
XRCC4 (X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 4) is a Protein Coding gene. Diseases associated with XRCC4 include short stature, microcephaly, and endocrine dysfunction and non-acquired isolated growth hormone deficiency. Among its related pathways are Infectious disease and Transport to the Golgi and subsequent modification. GO annotations related to this gene include ligase activity and protein C-terminus binding.
UniProtKB/Swiss-Prot for XRCC4 Gene
Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends.