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 |