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

Danio rerio
tomm40l
Mus musculus
Tomm40
Rattus norvegicus
Tomm40

References

Maruszak et al. (2012)

Other variants which are also part of this study