LongevityMap variant
Entry Details
- Longevity Association
- Non-significant
- Population
- Spanish
- Study Design
- The association between five common polymorphisms in genes of this pathway and extreme longevity were examined using a case (107 centenarian, 100–111 years, 89 female)-control (284 young adults, ≤50 years, 150 female) design
- Conclusions
- The studied genetic variants of the PPARD-PPARGC1A-NRF-TFAM pathway were not associated with extreme longevity. A marginal association could exist for rs1937 in TFAM (p=0.003).
- Identifier
- rs8192678
- In Other Studies (IDs)
- 2284
- Cytogenetic Location
- 4p15.2
- UCSC Genome Browser
- View 4p15.2 on the UCSC genome browser
Gene details
- HGNC symbol
- PPARGC1A
- Aliases
- LEM6; PGC1; PGC1A; PGC-1v; PPARGC1; PGC-1alpha; PGC-1(alpha)
- Common name
- PPARG coactivator 1 alpha
- Description
- The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 7
- OMIM
- 604517
- Ensembl
- ENSG00000109819
- UniProt/Swiss-Prot
- A0A024R9Q9_HUMAN
- Entrez Gene
- 10891
- UniGene
- 527078
- HapMap
- View on HapMap