XRCC4, Official Symbol XRCC4provided by HGNC Official Full Name X-ray repair cross complementing 4provided by HGNC Primary source HGNC:HGNC:12831 See related Ensembl:ENSG00000152422 MIM:194363; AllianceGenome:HGNC:12831 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SSMED; hXRCC4 Summary 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] Expression Ubiquitous expression in testis (RPKM 2.7), lymph node (RPKM 2.1) and 25 other tissues See more Orthologs mouse all