APTX antibody

APTX, also named as Aprataxin, is a nuclear protein, present in both the nucleoplasm and the nucleolus, which is a member of the histidine triad (HIT) superfamily. APTX is involved in DNA single-strand break repair, mediating protein-protein interactions with molecules responding to DNA damage. APTX 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.