The adrenocorticotropic hormone receptor

The presence of specific cell surface receptors for adrenocorticotropic hormone (ACTH) was first demonstrated in 1970. However, characterization and localization of the ACTH binding site have been extensively studied in adrenal cells of different species only in the 1980s. Cloning of the human ACTH and α-MSH receptors in 1992 defined a new class of G protein coupled receptors: the melanocortin receptor family, which comprises five members named MC1-R to MC5-R where MC2-R is the ACTH receptor. Thereafter, characterization of the promoter of MC2-R gene revealed that the orphan nuclear receptor steroidogenic factor 1 (SF-1) is involved in the regulation of its activity like some other genes of the steroidogenic pathway. Several inactivating mutations in the MC2-R gene are responsible for the ACTH resistance found in the familial isolated glucocorticoid deficiency syndrome or FGD.