The growth-hormone-releasing hormone receptor (GHRHR), expressed in the pituitary, is a G-protein-coupled receptor that binds growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. The GHRHR activates a Gs protein that causes a cascade of cAMP via Adenylate cyclase. Mutations in this gene have been associated with isolated growth-hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature.
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