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 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. [provided by RefSeq, Dec 2015]
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 Growth Hormone Deficiency, Isolated, Type Ia. Among its related pathways are Chks in Checkpoint Regulation and Infectious disease. 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.