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
- Caenorhabditis elegans
- spe-4
- Caenorhabditis elegans
- sel-12
- Caenorhabditis elegans
- hop-1
- 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