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). 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. [provided by RefSeq, Oct 2019]
GeneCards Summary for XRCC4 Gene
XRCC4 (X-Ray Repair Cross Complementing 4) is a Protein Coding gene. Diseases associated with XRCC4 include Short Stature, Microcephaly, And Endocrine Dysfunction and Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome. Among its related pathways are HIV Life Cycle and Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include ligase activity and protein C-terminus binding.
UniProtKB/Swiss-Prot Summary 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.