Adrenocorticotropic hormone (ACTH, POMC(138-176)) stimulates the adrenal glands, via its binding to adrenocorticotropic hormone receptor (MC2R) and subsequent downstream signaling, to release cortisol, a glucocorticoid released in response to stress whose primary functions are to stimulate gluconeogenesis, suppress the immune system and aid metabolism of fats, proteins and carbohydrates.Defects in ACTH can cause obesity (MIM:601665) resulting in excessive accumulation of body fat. Defects in ACTH can also cause pro-opiomelanocortinin deficiency (POMCD; MIM:609734) where affected individuals present early-onset obesity, adrenal insufficiency and red hair. Mutations causing POMCD include E79*, R236G and L25* (Krude et al. 1998, Challis et al. 2003, Krude et al. 2003).
Krude, H, Biebermann, H, Luck, W, Horn, R, Brabant, G, Grüters, A
Challis, BG, Pritchard, LE, Creemers, JW, Delplanque, J, Keogh, JM, Luan, J, Wareham, NJ, Yeo, GS, Bhattacharyya, S, Froguel, P, White, A, Farooqi, IS, O'Rahilly, S
Krude, H, Biebermann, H, Schnabel, D, Tansek, MZ, Theunissen, P, Mullis, PE, Grüters, A
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