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APTX aprataxin

Gene ID: 54840, updated on 5-Mar-2024
Gene type: protein coding
Also known as: AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT

Summary

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]

Genomic context

Location:
9p21.1
Sequence:
Chromosome: 9; NC_000009.12 (32972616..33025120, complement)
Total number of exons:
10

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