Article
ACTH resistance: genes and mechanisms.
Endocrine development - 1 Jan 2013
Meimaridou E, Hughes C R, Kowalczyk J, Chan L F, Clark A J L, Metherell L A
Abstract excerpt
ACTH resistance is a rare disorder typified by familial glucocorticoid deficiency (FGD), a genetically heterogeneous disease. Previously, genetic defects in FGD have been identified in the ACTH receptor gene (MC2R), its accessory protein (MRAP) and the steroidogenic acute regulatory protein gene (STAR). The defective mechanisms here are failures in ACTH ligand binding and/or receptor trafficking for MC2R and MRAP...
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