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A protein (forkhead-associated domain histidine triad-like protein, 356 aa) of the histidine triad (HIT) superfamily that interacts with several nucleolar proteins, including nucleolin, nucleophosmin, and upstream binding factor-1 (UBF-1), binds to DNA and is involved in DNA repair. The APTX gene is mutated in patients with the neurological disorder ataxia with oculomotor apraxia type 1 (AOA1) and coenzyme Q10 deficiency. Aprataxin and PNK-like factor (511 aa) are together involved in single-strand and double-strand DNA break repair.

Subjects: Medicine and Health.

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