The molecular basis of disorders caused by defects in G proteins.

Abstract excerpt

G proteins couple receptors for many hormones to effectors that regulate second messenger metabolism. G protein dysfunction could involve gain or loss of function. For Gs, the G protein that couples receptors to stimulation of cAMP formation, examples of both types have already been defined. Germline loss of function mutations in the Gs(alpha) gene are responsible for a form of inherited hormone resistance termed...

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