| ncRNA Symbol: | APTX |
| Full Name: | aprataxin |
| Category: | mRNA |
| Synonyms: | AOA|AOA1|AXA1|EAOH|EOAHA|FHA-HIT |
| Chromosome: | chr9 |
| Strand: | - |
| Coordinate: | | Start Site(bp): | 32972606 | End Site(bp): | 33025168 | |
| 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.[provided by RefSeq, Aug 2010] |
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