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.,
Cell membrane; Multi-pass membrane protein.
Melanocytes and corticoadrenal tissue.
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