Article
Polymorphisms and mutations in the melanocortin-3 receptor and their relation to human obesity.
Biochimica et biophysica acta. Molecular basis of disease - 1 Oct 2017
Demidowich Andrew P, Jun Joo Yun, Yanovski Jack A
Abstract excerpt
Inactivating mutations in the melanocortin 3 receptor (Mc3r) have been described as causing obesity in mice, but the physiologic effects of MC3R mutations in humans have been less clear. Here we review the MC3R polymorphisms and mutations identified in humans, and the in vitro, murine, and human cohort studies examining their putative effects. Some, but not all, studies suggest that the common human MC3R variant...
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