Mutations and diseases of G protein coupled receptors.
Currently known disease-causing mutations in G protein coupled receptors are reviewed and discussed in conjunction with other naturally occurring receptor mutations. Special emphasis is made on opsin, vasopressin and MSH receptor mutations and what they tell are beginning to tell us about the inner workings of this superfamily of signalling molecules.
Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030, USA.
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Birnbaumer
D000595:Amino Acid Sequence; D000818:Animals; D019204:GTP-Binding Proteins / Q000378:metabolism*; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D008969:Molecular Sequence Data; D015394:Molecular Structure; D009154:Mutation; D011956:Receptors, Cell Surface / Q000737:chemistry / Q000145:classification / Q000235:genetics*; D011979:Receptors, Pituitary Hormone / Q000235:genetics; D017483:Receptors, Vasopressin / Q000235:genetics; D017299:Rod Opsins / Q000378:metabolism; D015398:Signal Transduction
D011956:Receptors, Cell Surface; D011979:Receptors, Pituitary Hormone; D017483:Receptors, Vasopressin; D017299:Rod Opsins; C029446:MSH receptor; D019204:GTP-Binding Proteins