G protein-coupled receptor structure and function: the impact of disease-causing mutations.
Just as the discovery of 'inborn errors of metabolism' in humans contributed to our basic understanding of normal enzymatic pathways, so can genetic defects in signal transduction help to elucidate the functions normally subserved by different GPCR pathways. Identification and characterization of naturally occurring GPCR mutations not only has inherent value in understanding the molecular basis of disease, but can also accelerate progress in understanding the fundamental mechanisms involved in GPCR synthesis, transport to the membrane, ligand binding, activation and deactivation.
Shenker
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Metabolic Diseases Branch, NIDDK National Institutes of Health, Bethesda, MD 20892-1752, USA.
D019204:GTP-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic; D011629:Puberty, Precocious / Q000235:genetics; D011956:Receptors, Cell Surface / Q000235:genetics* / Q000378:metabolism; D012173:Retinitis / Q000235:genetics; D012243:Rhodopsin / Q000235:genetics / Q000378:metabolism; D013959:Thyroid Diseases / Q000235:genetics
D011956:Receptors, Cell Surface; D012243:Rhodopsin; D019204:GTP-Binding Proteins