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Beschreibung

Aprataxin (UniProt Q7Z2E3, also known as FHA-HIT, Forkhead-associated domain histidine triad-like protein) is encoded by the APTX (also known as AOA, AOA1, AXA1, EAOH, EOAHA) gene (Gene ID 54840) in human. Aprataxin contains an N-terminal forkhead-associated (FHA, a.a. 38-87) domain akin to that found in the DNA end damage repair factor polynucleotide kinase phosphatase (PNKP), followed by a histidine triad (HIT, a.a. 182-287) domain found in nucleoside hydrolases and transferases, and a C-terminal C2H2 type Zinc finger domain. Aprataxin exhibits both DNA- and RNA-binding activity and plays a role in reversing toxic 5'-adenylated (5'-AMP) DNA lesions generated by DNA ligases when encountering nicked DNA structures with abnormal DNA termini. Aprataxin functions as a DNA ligase proofreader to directly reverse damaged 5'-adenylated termini of DNA strand breaks that have been subjected to DNA damage-induced abortive processing by DNA ligases. Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive neurological syndrome caused by an impairment in DNA repair as a result of APTX gene mutations. The related type 2 disorder AOA2 is caused by a Senataxin-deficiency due to SETX gene mutations.