G protein-coupled receptor structure and function: the impact of disease-causing mutations

Baillieres Clin Endocrinol Metab. 1995 Jul;9(3):427-51. doi: 10.1016/s0950-351x(95)80519-2.


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.

Publication types

  • Review

MeSH terms

  • GTP-Binding Proteins / genetics*
  • GTP-Binding Proteins / metabolism
  • Humans
  • Male
  • Mutation
  • Phenotype
  • Polymorphism, Genetic
  • Puberty, Precocious / genetics
  • Receptors, Cell Surface / genetics*
  • Receptors, Cell Surface / metabolism
  • Retinitis / genetics
  • Rhodopsin / genetics
  • Rhodopsin / metabolism
  • Thyroid Diseases / genetics


  • Receptors, Cell Surface
  • Rhodopsin
  • GTP-Binding Proteins