APTX( Human )

Entrez Gene 54840 Entrez Gene 54840
aprataxin

Alias

AOA|AOA1|AXA1|EAOH|EOAHA|FHA-HIT

This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010].

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