UCP3 Chromosome 11
Uncoupling protein 3
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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. 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]
Gene Info
Gene Group
Solute carrier family 25
Locus Type
gene with protein product
Location
11q13.4
Ensembl
ENSG00000175564
Associated Conditions (5)
Obesity
severe
and type II diabetes
UCP3-related disorder
Inherited obesity
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894319 | Health Risk | Conflicting classifications of pathogenicity | Obesity, severe, and type II diabetes |
| RS763155375 | Health Risk | Conflicting classifications of pathogenicity | UCP3-related disorder, Obesity, UCP3-related disorder |