title: Endogenous mutations in human uncoupling protein 3 alter its functional properties.
abstract: Human uncoupling protein (UCP3) is a mitochondrial transmembrane carrier that uncouples oxidative phosphorylation and is a candidate gene for obesity. Expression of native human UCP3 mutations in yeast showed complete loss (R70W), significant reduction (R143X), or no effect (V102I and IVS6+1G > A) on the uncoupling activity of UCP3. It is concluded that certain mutations in UCP3 alter its functional impact on membrane potential (deltaphi), possibly conferring susceptibility to develop metabolic diseases.
authors.affiliation: Department of Medicine, Division of Endocrinology, Medical University of South Carolina, 114 Doughty Street, Charleston, SC, USA.
authors.forename: A M
authors.initials: AM
authors.lastname: Brown
authors.forename: J W
authors.initials: JW
authors.lastname: Dolan
authors.forename: S M
authors.initials: SM
authors.lastname: Willi
authors.forename: W T
authors.initials: WT
authors.lastname: Garvey
authors.forename: G
authors.initials: G
authors.lastname: Argyropoulos
mesh_terms: D002352:Carrier Proteins / Q000235:genetics* / Q000502:physiology*; D018076:DNA, Complementary; D006801:Humans; D007473:Ion Channels; D008928:Mitochondria / Q000378:metabolism; D024101:Mitochondrial Proteins; D009154:Mutation; D012441:Saccharomyces cerevisiae / Q000235:genetics / Q000254:growth & development; D000071247:Uncoupling Protein 3
chemical_list: D002352:Carrier Proteins; D018076:DNA, Complementary; D007473:Ion Channels; D024101:Mitochondrial Proteins; C000604392:UCP3 protein, human; D000071247:Uncoupling Protein 3