PubMed · 10618503
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.
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A M Brown, J W Dolan, S M Willi, W T Garvey, G Argyropoulos. 1999-12-31. Endogenous mutations in human uncoupling protein 3 alter its functional properties.. https://doi.org/10.1016/s0014-5793(99)01708-1
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