UCP2 Chromosome 11

Uncoupling protein 2
4 variants 4 Health Risk

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What This Gene Does
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. 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 in many tissues, with the greatest expression in skeletal muscle. It is thought to play a role in nonshivering thermogenesis, obesity and diabetes. Chromosomal order is 5'-UCP3-UCP2-3'. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Solute carrier family 25
Locus Type
gene with protein product
Location
11q13.4
Ensembl
ENSG00000175567
Associated Conditions (2)
UCP2-related disorder
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4
Key Variants
All Variants (4)
RSID Category Clinical Significance Conditions
RS114649509 Health Risk Conflicting classifications of pathogenicity
RS145662569 Health Risk Conflicting classifications of pathogenicity UCP2-related disorder, UCP2-related disorder
RS45524433 Health Risk Conflicting classifications of pathogenicity UCP2-related disorder, UCP2-related disorder
RS659366 Health Risk risk factor BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4
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