Article
Decreased melanocortin-4 receptor function conferred by an infrequent variant at the human melanocortin receptor accessory protein 2 gene.
Obesity (Silver Spring, Md.) - 1 Sept 2016
Schonnop Laura, Kleinau Gunnar, Herrfurth Nikolas, Volckmar Anna-Lena, Cetindag Cigdem, Müller Anne, Peters Triinu, Herpertz Stephan, Antel Jochen, Hebebrand Johannes, Biebermann Heike, Hinney Anke
Abstract excerpt
OBJECTIVE: The melanocortin receptor accessory protein 2 (MRAP2) is relevant for weight regulation in mice and humans. This function is likely mediated by regulation of the melanocortin-4 receptor (MC4R). Functional implications of human MRAP2 mutations have not been described yet. METHODS: A mutation screen was conducted in MRAP2 in 184 children and adolescents with (extreme) obesity and in 184 lean controls....
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