Abstract
G-protein-coupled signaling systems play a role in a diversity of normal physiological functions. Logically, one might predict that mutations in genes encoding any one of the G-protein subunits, G-protein-coupled receptors, or effector proteins of a given signaling pathway could lead to disease. Mutations of G-protein-coupled signaling proteins known to cause human diseases are reviewed here, with a primary emphasis on the mammalian phototransduction system.
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