Gene: XRCC4
Alternate names for this Gene: SSMED
Gene 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.
Gene is located in Chromosome: 5
Location in Chromosome : 5q14.2
Description of this Gene: X-ray repair cross complementing 4
Type of Gene: protein-coding