LongevityMap variant group
Entry Details
- Longevity Association
- Significant
- Population
- Danish
- Study Design
- Two cohorts of middle aged (N = 708; 356 males and 352 females) and oldest old individuals (N = 908; 265 males and 643 females) were genotyped for UCP3 polymorphisms, hand grip performance and survival at old age
- Conclusions
- The study showed that after 10 years from the start of the project, a significant effect on survival chances was observed for rs11235972 and rs3781907. Carriers of the A allele at rs11235972 and carriers of the G allele at rs3781907 showed a reduced survival chance. Interestingly, the rs11235972-A variation was also associated with a decreased in hand grip performance in this cohort. The rs3781907 variant displayed only a borderline association with hand grip performance.
Variants (2)
1.
- Identifier
- rs11235972
- In Other Studies (IDs)
- 2169
- Cytogenetic Location
- 11q13.4
- UCSC Genome Browser
- View 11q13.4 on the UCSC genome browser
2.
- Identifier
- rs3781907
- In Other Studies (IDs)
- 2175
- Cytogenetic Location
- 11q13.4
- UCSC Genome Browser
- View 11q13.4 on the UCSC genome browser
Gene details
- HGNC symbol
- UCP3
- Aliases
- SLC25A9
- Common name
- uncoupling protein 3
- Description
- Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. The different UCPs have tissue-specific expression; this gene is primarily expressed in skeletal muscle. This gene's protein product is postulated to protect mitochondria against lipid-induced oxidative stress. Expression levels of this gene increase when fatty acid supplies to mitochondria exceed their oxidation capacity and the protein enables the export of fatty acids from mitochondria. UCPs contain the three solcar protein domains typically found in MACPs. Two splice variants have been found for this gene.[provided by RefSeq, Nov 2008]
- Other longevity studies of this gene
- 9
- OMIM
- 602044
- Ensembl
- ENSG00000175564
- UniProt/Swiss-Prot
- A0A0S2Z4G5_HUMAN
- Entrez Gene
- 7352
- UniGene
- 101337
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as UCP3