LongevityMap variant group

Entry Details

Longevity Association: Significant
Population: Italian (Southern)
Study Design: Two polymorphisms (A-3826G and C-3740A), falling in the upstream promoter region of UCP1, were analyzed in a sample of 910 unrelated subjects from southern Italy (475 women and 435 men; age range 40–109)
Conclusions: Haplotype specific survival functions show that the A-C haplotype favors survival in the elderly. The results indicate that the A-C haplotype has a recessive and beneficial effect, while the G-A haplotype has a dominant and deleterious effect on human aging and longevity.

HGNC symbol: UCP1
Aliases: UCP; SLC25A7
Common name: uncoupling protein 1
Description: Mitochondrial uncoupling proteins (UCP) are members of the 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. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed only in brown adipose tissue, a specialized tissue which functions to produce heat. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene: 11
OMIM: 113730
Ensembl: ENSG00000109424
UniProt/Swiss-Prot: Q4KMT7_HUMAN
Entrez Gene: 7350
UniGene: 249211
HapMap: View on HapMap

GenAge human genes

Rose et al. (2011)