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APTX

Official Full Name
aprataxin
Organism
Homo sapiens
GeneID
54840
Background
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]
Synonyms
AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT;

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