LongevityMap Gene
Gene details
- HGNC symbol
- APTX
- Aliases
- AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT
- Common name
- aprataxin
- Description
- 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]
- Cytogenetic Location
- 9p21.1
- UCSC Genome Browser
- View 9p21.1 on the UCSC genome browser
- OMIM
- 606350
- Ensembl
- ENSG00000137074
- UniProt/Swiss-Prot
- APTX_HUMAN
- Entrez Gene
- 54840
- UniGene
- 20158
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Danio rerio
- aptx
- Drosophila melanogaster
- CG5316
- Mus musculus
- Aptx
- Rattus norvegicus
- Aptx
- Saccharomyces cerevisiae
- HNT3
- Schizosaccharomyces pombe
- hnt3
In other databases
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as HNT3
- GenAge human genes
- This gene is present as APTX
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Danish
- Study Design
- 592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
- Conclusions
- The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
- Indentifier
- rs1197774
- Reference