Q7Z2E3

Aprataxin also known as AOA, APTX is a member of the histidine triad (HIT) superfamily and mediates protein-protein interactions with other molecules involved in cellular response to DNA damage. The structure of Aprataxin includes three conserved domains: an N-terminal forkhead-associated (FHA) domain that facilitates these interactions, a HIT domain that shares similarities with Hint, and a C-terminal zinc finger domain that contributes to stability and function. Mutations in the APTX gene, which encodes Aprataxin, can lead to protein destabilization and are associated with a rare neurological disorder known as ataxia-oculomotor apraxia, characterized by abnormal head and eye movements. These mutations typically affect the HIT domain or result in truncation before the zinc finger, underscoring Aprataxin′s structural integrity for DNA repair and cellular health.