LongevityMap variant
Entry Details
- Longevity Association
- Non-significant
- Population
- Italian (Southern)
- Study Design
- A total of 598 subjects (293 men and 305 women, age range 64–105 years; mean ages 82.74 and 85.23 years, respectively) were analyzed for genetic variability in Uncoupling Proteins (UCPs). The set was divided into two age classes. The separation threshold for these two classes was 88 years for men and 91 years for women.
- Conclusions
- Using the minor allele for each SNP as reference and after adjusting for BMI and sex, the dominant model for the rs660339 (UCP2) and the rs1800849 (UCP3) resulted to be significantly associated with the longevity phenotype (p = 0.001 in both cases), while the recessive model was the most likely for SNPs rs15763 (UCP3), rs9472817 (UCP4) and rs2235800 (UCP5) (p < 0.05). After adjusting for multiple testing, all the previous associations remained statistically significant, except those for rs2235800 of the UCP5 gene (p= 0.058).
- Identifier
- rs2235800
- Cytogenetic Location
- Xq26.1
- UCSC Genome Browser
- View Xq26.1 on the UCSC genome browser
Gene details
- HGNC symbol
- SLC25A14
- Aliases
- UCP5; BMCP1
- Common name
- solute carrier family 25 member 14
- Description
- Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). Uncoupling proteins separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. Uncoupling proteins 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. This gene is widely expressed in many tissues with the greatest abundance in brain and testis. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 4. [provided by RefSeq, Aug 2013]
- OMIM
- 300242
- Ensembl
- ENSG00000102078
- UniProt/Swiss-Prot
- B4DMK1_HUMAN
- Entrez Gene
- 9016
- UniGene
- 194686
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge model organism genes
- A homolog of this gene for Drosophila melanogaster is present as Bmcp