Endocrine Abstracts

Mutations in the ACTH receptor (Melanocortin 2 receptor/MC2R) are associated with Familial Glucocorticoid Deficiency/FGD. FGD is an autosomal recessive disorder that results from ACTH insensitivity at the adrenal cortex. However, only about 25% of FGD are caused by mutations in the MC2R suggesting the genetically heterogeneous nature of the disease. The transfection-mediated functional expression of the MC2R can only be achieved in cell lines of adrenal origin implying that th...

MC2R is the smallest member of the GPCR superfamily and belongs to the melanocortin subfamily of receptors. The pituitary hormone ACTH acts through MC2R to induce the intracellular production cAMP and the stimulation of steroidogenesis. We have previously shown that MC2R interacts with a single-transmembrane domain protein called MRAP (melanocortin-2 receptor accessory protein) and is required for the functional expression of MC2R. Both MC2R and MRAP are mutated in the rare re...