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
- tsc1a
- 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