LongevityMap variant
Entry Details
- Longevity Association
- Significant
- Population
- Polish
- Study Design
- The impact of TOMM40 poly-T tracts on late-onset Alzheimer's disease (LOAD) incidence, age of onset, and longevity were investigated in of 414 LOAD patients (64.3% female, 74.64 ± 5.60 y), 173 centenarians (83.81% females, 98.45 ± 1.72, 105 with LOAD) and 305 neurologically healthy individuals (72.8% females, 70.36 ± 5.88 y)
- Conclusions
- TOMM40 allelic variants were significantly associated with LOAD risk. L allele, as well as genotypes (S/L, V/L) and haplotypes (L-E3, L-E4) comprising L, significantly reduce the likelihood of living up to 100 years ( P < 0.001).
- Identifier
- rs10524523
- Cytogenetic Location
- 19q13.32
- UCSC Genome Browser
- View 19q13.32 on the UCSC genome browser
Gene details
- 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
In other databases
- CellAge gene expression
- This gene is present as TOMM40