Article
Functional characterization of mutations in melanocortin-4 receptor associated with human obesity.
The Journal of biological chemistry - 10 Dec 1999
Ho G, MacKenzie R G
Abstract excerpt
Melanocortin-4 receptor (MC4R) is a G protein-coupled receptor implicated in the regulation of body weight. Genetic studies in humans have identified two frameshift mutations of MC4R associated with a dominantly inherited form of obesity. We have generated and expressed the corresponding MC4R mutants in 293T cells and found that cells transfected with the truncation mutants failed to exhibit agonist binding or...
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