Aprataxin is a nuclear protein, present in both the nucleoplasm and the nucleolus, which is a member of the histidine triad (HIT) superfamily. Aprataxin is involved in DNA single-strand break repair, mediating protein-protein interactions with molecules responding to DNA damage. Aprataxin contains three conserved domains: an N-terminal forkhead-associated (FHA) domain which mediates protein-protein interactions, a HIT domain that is similar to Hint, and a C-terminal zinc finger domain. Loss of function mutations in APTX, the gene encoding for Aprataxin, destabilize the Aprataxin protein and result in a rare neurological disorder known as ataxia-oculomotor apraxia, characterized by abnormal movements of the head and eyes. These mutations either target the HIT domain or truncate the protein N-terminal to a zinc finger.
Synonyms: AOA 1, AOA, AOA, AOA1, AOA1, Aprataxin, Aprataxin, Aprataxin homolog, APTX, APTX, APTX_HUMAN, Ataxia 1 early onset with hypoalbuminemia, Ataxia 1 early onset with hypoalbuminemia, Ataxia1 early onset with hypoalbuminemia, AXA 1, AXA1, AXA1, EAOH, EAOH, EOAHA, EOAHA, FHA HIT, FHA HIT, FHA-HIT, FLJ20157, FLJ20157, Forkhead associated domain histidine triad like, Forkhead associated domain histidine triad like, Forkhead associated domain histidine triad like protein, Forkhead-associated domain histidine triad-like protein, MGC1072, MGC1072.