Receptor for ACTH. This receptor is mediated by G proteins (G(s)) which activate adenylate cyclase.
Melanocytes and corticoadrenal tissue.
Involvement in 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.
Belongs to the G-protein coupled receptor 1 family.