APTX(redirected from ataxia 1, early onset with hypoalbuminaemia)
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APTXA gene on chromosome 9p13.3 that encodes aprataxin, a DNA-binding protein involved in single- and double-stranded DNA break repair and base excision repair. It resolves abortive DNA ligation intermediates, formed either at base excision sites or when DNA ligases try to repair non-ligatable breaks induced by reactive oxygen species.
Defects of APTX cause ataxia-oculomotor apraxia syndrome, and are a cause of coenzyme Q10 deficiency (COQ10D).
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