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
Mus musculus
Aptx
Rattus norvegicus
Aptx
Schizosaccharomyces pombe
hnt3

In other databases

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