Aprataxin (APTX)

Aprataxin is a member of the histidine triad (HIT) superfamily, some of which have nucleotide-binding and diadenosine polyphosphate hydrolase activities. The encoded protein may play a role in single-stranded DNA repair. Mutations in this gene have been associated with ataxia-ocular apraxia. Multiple transcript variants encoding distinct isoforms have been identified for this gene, however, the full length nature of some variants has not been determined.Moreira et al. (2001) identified 2 major mRNA species of APTX resulting from alternative splicing of exon 3: a short form of 168 amino acids and the first ATG codon in exon 3, and a long form with an additional 115 nucleotides of the 5-prime portion of exon 3, resulting in the addition of another 174 amino acids (for a total of 342 amino acids) and the first codon ATG codon in exon 1.