LongevityMap Gene

Gene details

HGNC symbol
PSEN1 
Aliases
AD3; FAD; PS1; PS-1; S182 
Common name
presenilin 1 
Description
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]
Cytogenetic Location
14q24.2
UCSC Genome Browser
View 14q24.2 on the UCSC genome browser
OMIM
104311
Ensembl
ENSG00000080815
UniProt/Swiss-Prot
A0A024R6A3_HUMAN
Entrez Gene
5663
UniGene
3260
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
psen1
Drosophila melanogaster
Psn
Mus musculus
Psen1
Rattus norvegicus
Psen1

In other databases

GenAge human genes
  • This gene is present as PSEN1

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
American (Caucasian)
Study Design
Genome-wide association study for longevity-related traits in up to 1345 Framingham Study participants from 330 families; 713 participants achieved age 65 years or greater. A total of 79 potential candidate genes and regions associated with longevity were also studied.
Conclusions
Although no genome-wide associations were significant, several SNPs in some previously associated genes with longevity had suggestive associations with age at death or morbidity-free survival at age 65 years. Noteworthy results included two SNPs within FOXO1A (rs10507486 and rs4943794) associated with age at death.
Indentifier
rs362356
Reference