Article
Systematic mutation screening of the pro-opiomelanocortin gene: identification of several genetic variants including three different insertions, one nonsense and two missense point mutations in probands of different weight extremes.
The Journal of clinical endocrinology and metabolism - 1 Oct 1998
Hinney A, Becker I, Heibült O, Nottebom K, Schmidt A, Ziegler A, Mayer H, Siegfried W, Blum W F, Remschmidt H, Hebebrand J
Abstract excerpt
Pro-opiomelanocortin (POMC) is the precursor of melanocortins (adrenocorticotropin: ACTH, beta-endorphin, beta-lipotropin: beta-LPH, corticotropin like intermediate peptide, alpha-, beta- and gamma-melanocyte-stimulating hormone: alpha-, beta- and gamma-MSH) some of which act in the brain to reduce food intake and are potential mediators of leptin action. Recently, three different mutations in the POMC gene...
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