Article
Melanocortin-4 receptor in energy homeostasis and obesity pathogenesis.
Progress in molecular biology and translational science - 1 Jan 2013
Hinney Anke, Volckmar Anna-Lena, Knoll Nadja
Abstract excerpt
The melanocortin-4 receptor gene (MC4R) has intensively been analyzed in molecular genetic obesity research. Decreased MC4R activity leads to obesity. Currently 166 nonsynonymous, nonsense, deletion, and frameshift MC4R mutations have been described. Vast numbers of these mutations were identified in (extremely) obese individuals. Total or partial loss of MC4R function results from most detected mutations, as...
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