Disease-gene associations mined from literature

Literature associating APTX and ophthalmoplegia

APTX [ENSP00000400806]

Forkhead-associated domain histidine triad-like protein; DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair. Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non-ligatable breaks induced by reactive oxygen species. Catalyzes the release of adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini that can be efficiently rejoined. Also able to hydrolyze adenosine 5'- monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity. Likewise, catalyzes the release of 3'-linked guanosine (DNAppG) and inosine (DNAppI) from DNA, but has higher specific activity with 5'-linked adenosine (AppDNA) (By similarity).

Synonyms:  APTX,  C9J8U3,  C9JZ40,  E7EUY4,  E7EVB7 ...

Linkouts:  STRING  Pharos  UniProt