LongevityMap variant
- Longevity Association
- Significant
- Population
- Dutch
- Study Design
- Genome-wide association study in 403 unrelated nonagenarians from long-living families and 1670 younger controls. Strongest candidates were then investigated in a meta-analysis of 4149 nonagenarian cases and 7582 younger controls.
- Conclusions
- No SNP reached significance in the GWAS but 62 SNPs had an indicative association with survival into old age. Of these 62 SNPs then studied in the meta-analysis, only one was significant: rs2075650 located in TOMM40 and close to APOE. This association may be due to linkage disequilibrium with rs429358 and rs7412 in APOE; both rs429358 and rs7412 were associated with longevity in the meta-analysis.
- HGNC symbol
- TOMM40
- Aliases
- TOM40; PEREC1; C19orf1; PER-EC1; D19S1177E
- Common name
- translocase of outer mitochondrial membrane 40
- Description
- The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
- Other longevity studies of this gene
- 6
- OMIM
- 608061
- Ensembl
- ENSG00000130204
- UniProt/Swiss-Prot
- TOM40_HUMAN
- Entrez Gene
- 10452
- UniGene
- 655909
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- tomm-40
- Danio rerio
- tomm40l
- Danio rerio
- tomm40
- Drosophila melanogaster
- Tom40
- Drosophila melanogaster
- tomboy40
- Mus musculus
- Tomm40
- Rattus norvegicus
- Tomm40
- Saccharomyces cerevisiae
- TOM40
- CellAge gene expression
- This gene is present as TOMM40
Deelen et al. (2011)
Other variants which are also part of this study
