XRCC4

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolXRCC4
NameX-ray repair cross complementing 4
Typeprotein-coding
Sourcemygene

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 splic

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