MT2reseptor

Melanocortin 2 receptor, also known as MC2R or the ACTH receptor, is a G protein-coupled receptor that is primarily expressed in the adrenal cortex. Its main function is to mediate the effects of adrenocorticotropic hormone (ACTH), a peptide hormone produced by the anterior pituitary gland. ACTH binding to MC2R triggers a cascade of intracellular events that ultimately lead to the synthesis and release of steroid hormones, particularly cortisol and aldosterone. This process is crucial for regulating a wide range of physiological functions, including stress response, metabolism, and electrolyte balance.

The MC2R is an unusual receptor in that it requires a unique accessory protein, MC3R accessory protein (ASIP), also known as the melanocortin 2 receptor accessory protein (MRAP), for proper trafficking to the cell surface and for signaling. Without ASIP, MC2R remains largely intracellular and non-functional. Mutations in the MC2R gene can lead to a rare genetic disorder called familial glucocorticoid deficiency, characterized by insufficient cortisol production and a range of symptoms including hypoglycemia, weakness, and pigmentation changes. Similarly, mutations in the ASIP gene can cause a more severe form of adrenal insufficiency. Understanding the MC2R and its interactions is vital for comprehending adrenal gland function and developing treatments for related disorders.