Polymorphic G-protein-coupled receptors and associated diseases.
Polymorphisms are quite common in the human population. Most likely every gene could be polymorphic. Most of these variations are common and have no functional consequence. However, as we learn more about the function of G-protein-coupled receptors (GPCRs) and how amino acid differences can modulate the function enough to measure, especially in a compromised physical state, the importance of characterizing these variations becomes substantial. This review will focus on polymorphisms in receptors that bind biogenic amines, calcium, opioids, endothelin, and those that also regulate taste, skin pigmentation, and oogenesis that have been suggested to cause variations of physiology.
Perez
Dianne M
DM
Department of Molecular Cardiology NB50, Lerner Research Institute, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA. perezd@ccf.org
D019204:GTP-Binding Proteins / Q000378:metabolism*; D006801:Humans; D009154:Mutation; D011110:Polymorphism, Genetic; D011956:Receptors, Cell Surface / Q000378:metabolism*
D011956:Receptors, Cell Surface; D019204:GTP-Binding Proteins