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Pharmacol Ther. 2004 Dec;104(3):173-206.

Mutant G-protein-coupled receptors as a cause of human diseases.

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Institute of Biochemistry, Department of Molecular Biochemistry (Max-Planck-Institute Interim), Medical Faculty, University of Leipzig, Deutscher Platz 6, 04103 Leipzig, Germany.


G-protein-coupled receptors (GPCR) are involved in directly and indirectly controlling an extraordinary variety of physiological functions. Their key roles in cellular communication have made them the target for more than 60% of all currently prescribed drugs. Mutations in GPCR can cause acquired and inherited diseases such as retinitis pigmentosa (RP), hypo- and hyperthyroidism, nephrogenic diabetes insipidus, several fertility disorders, and even carcinomas. To date, over 600 inactivating and almost 100 activating mutations in GPCR have been identified which are responsible for more than 30 different human diseases. The number of human disorders is expected to increase given the fact that over 160 GPCR have been targeted in mice. Herein, we summarize the current knowledge relevant to understanding the molecular basis of GPCR function, with primary emphasis on the mechanisms underlying GPCR malfunction responsible for different human diseases.

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