LongevityMap variant
Entry Details
- Longevity Association
- Significant
- Population
- Italian (Southern)
- Study Design
- A VNTR polymorphism (72-bp repeat core) in intron 5 was analyzed in 945 subjects (312 males and 391 females of 20- to 80-year-old and 242 subjects 90- to 106-year-old, median age 102 years)
- Conclusions
- The VNTR region has an allele specific enhancer activity. The allele completely lacking enhancer activity (allele 2) is virtually absent in males older than 90 years. Age effects were not observed in females.
- Identifier
- VNTR
- 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