LongevityMap variant
Entry Details
- Longevity Association
- Non-significant
- Population
- European
- Study Design
- The chromosomal region 11p.15.5 was investigated in 1321 centenarians and 1140 younger subjects from European samples
- Conclusions
- No significant results were observed for genes previously associated with longevity, except for SIRT3. A replication study in a French population did not confirm earlier findings for SIRT3, however. A meta-analysis approach of SIRT3 SNPs did not reveal robust signals.
- Identifier
- rs11246020
- In Other Studies (IDs)
- 1494
- Cytogenetic Location
- 11p15.5
- UCSC Genome Browser
- View 11p15.5 on the UCSC genome browser
Gene details
- HGNC symbol
- SIRT3
- Aliases
- SIR2L3
- Common name
- sirtuin 3
- Description
- This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Two alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 24
- OMIM
- 604481
- Ensembl
- ENSG00000142082
- UniProt/Swiss-Prot
- SIR3_HUMAN
- Entrez Gene
- 23410
- UniGene
- 716456
- HapMap
- View on HapMap