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. 2013 Feb 8;4:9. doi: 10.3389/fendo.2013.00009

Table 1.

The members of the melanocortin receptor family, expression, action, and phenotype of individuals with mutations.

Receptor Main sites of expression Physiological functions Disease phenotype of patients with loss-of-function mutations OMIM
MC1R Melanocytes, macrophage Pigmentation, inflammation Increased risk of skin cancers 155555
MC2R Adrenal cortex Adrenal steroidogenesis Familial glucocorticoid deficiency 202200
MC3R Central nervous system (CNS), gastrointestinal (GI) tract, Kidney Energy homeostasis, inflammation Obesity 155540
MC4R CNS, spinal cord Energy homeostasis, appetite regulation, erectile function Obesity 155541
MC5R Lymphocytes, exocrine cells Exocrine function, regulation of sebaceous glands Decreased production of sebaceous lipids in mice 600042