Gene: APTX
Alternate names for this Gene: AOA|AOA1|AXA1|EAOH|EOAHA|FHA-HIT
Gene 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.
Gene is located in Chromosome: 9
Location in Chromosome : 9p21.1
Description of this Gene: aprataxin
Type of Gene: protein-coding