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G22P1 Gene
Definition and Synonyms

Definition: The G22P1 gene at 22q11-q13 encodes Ku70, a 70-kD subunit of the Ku antigen in DNA repair or transposition. The Ku antigen is a complex that binds to the ends of double-stranded DNA in a cell cycle-dependent manner and Ku70 mediates binding of the Ku complex to DNA. Though a major threat to living cells, eukaryotes can process double-strand DNA breaks (DSBs) by homologous recombination (HR) or nonhomologous end joining (NHEJ). Ku70 acts as a switch between these 2 DSB repair pathways. When present, Ku70 destines DSBs for NHEJ by binding to DNA ends and attracting other factors for NHEJ, including MRE11. When absent, it allows participation of DNA ends and MRE11 in the meiotic HR pathway. Ku70 deficiency facilitates neoplastic growth and the G22P1 gene is important in tumor suppression. The autoantibody has been found in patients with autoimmune thyroid disease (Graves disease) as well as in those with lupus. (from OMIM 152690 and NCI)

Synonyms: G22P1 Gene, G22P1, Ku70, TLAA

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