[HTML][HTML] Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity

WAJ Nijenhuis, KM Garner, RJ van Rozen… - Journal of Biological …, 2003 - ASBMB
The melanocortin-4 receptor (MC4R) plays an important role in the regulation of body weight
in rodents. Mutations in the coding region of the MC4R are found more frequently in obese
individuals, supporting the hypothesis that also in humans deficient melanocortin signaling
may lead to obesity. Family studies that were carried out to demonstrate the relevance of
single mutations for obesity were mostly inconclusive, most likely due to small sample size
and complexity of the trait. In addition, the existing pharmacological data of the mutant …