MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. Alternate transcript variants have been found for this gene. [provided by RefSeq, May 2014],disease:Defects in MC2R are the cause of glucocorticoid deficiency type 1 (GCCD1) [MIM:202200], also known as familial glucocorticoid deficiency type 1 (FGD1). GCCD1 is an autosomal recessive disorder due to congenital insensitivity or resistance to adrenocorticotropin (ACTH). It is characterized by progressive primary adrenal insufficiency, without mineralocorticoid deficiency.,function:Receptor for ACTH. This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase.,similarity:Belongs to the G-protein coupled receptor 1 family.,subunit:Interacts with FALP/MRAP.,tissue specificity:Melanocytes and corticoadrenal tissue.,
