LongevityMap Gene

Gene details

HGNC symbol
TSC1 
Aliases
LAM; TSC 
Common name
tuberous sclerosis 1 
Description
This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]
Cytogenetic Location
9q34.13
UCSC Genome Browser
View 9q34.13 on the UCSC genome browser
OMIM
605284
Ensembl
ENSG00000165699
UniProt/Swiss-Prot
Q32NF0_HUMAN
Entrez Gene
7248
UniGene
370854
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
tsc1b
Drosophila melanogaster
Tsc1
Mus musculus
Tsc1
Rattus norvegicus
Tsc1
Schizosaccharomyces pombe
tsc1

In other databases

GenAge model organism genes
  • A homolog of this gene for Drosophila melanogaster is present as Tsc1

Studies (1)

Significant/Non-significant: 1/0

Longevity Association
Significant
Population
Dutch
Study Design
1,018 SNPs within a 10-kb window around 40 mTOR signalling genes were studied for differences in variation between 417 unrelated nonagenarian participants and 476 younger controls
Conclusions
As a whole, there was a significant association of genetic variation in the mTOR pathway and familial longevity, though no individual gene was significant after correcting for multiple hypothesis testing
Indentifier
TSC1
Reference