Gene Symbol | XRCC4 |
Entrez Gene ID | 7518 |
Full Name | X-ray repair cross complementing 4 |
Synonyms | SSMED |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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). Alternative splicing generates several transcript variants. [provided by RefSeq, Dec 2015]. |
Disorder MIM: | |
Disorder Html: | Short stature, microcephaly, and endocrine dysfunction, 616541 (3) |