title: Obesity-associated mutations in the human melanocortin-4 receptor gene.
abstract: Mutations in the human melanocortin-4 receptor (MC4R) gene have been associated with severe obesity. Many of the mutations result in partial or complete loss-of-function based on the nature of the mutation or the function of mutated receptors when tested in heterologous expression systems. This review discusses the role of MC4R in the central regulation of body weight, the pathogenic mechanisms of the mutations, and the validity of MC4R as an anti-obesity drug target.
authors.affiliation: Department of Psychiatry and Behavioral Neurosciences, Wayne State University School of Medicine, 3228 Scott Hall, 540 E. Canfield, Detroit, MI 48201, USA. rmackenz@med.wayne.edu
authors.forename: Robert G
authors.initials: RG
authors.lastname: MacKenzie
mesh_terms: D000818:Animals; D015519:Bone Density / Q000235:genetics; D005799:Genes, Dominant; D005838:Genotype; D006801:Humans; D006946:Hyperinsulinism / Q000235:genetics; D006963:Hyperphagia / Q000235:genetics; D051379:Mice; D009154:Mutation; D009765:Obesity / Q000235:genetics*; D010641:Phenotype; D044105:Receptor, Melanocortin, Type 4 / Q000145:classification / Q000235:genetics* / Q000502:physiology*
chemical_list: D044105:Receptor, Melanocortin, Type 4