{"symbol":"XRCC4","synonyms":["SSMED"],"name":"X-ray repair complementing defective repair in Chinese hamster cells 4","description":"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]","ncbiEntrezGeneId":7518,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/7518","proteins":[{"symbol":"XRCC4_HUMAN","href":"/api/1.0/protein/XRCC4_HUMAN"}],"hgncRootFamilies":[]}