Mutations and diseases of G protein coupled receptors

J Recept Signal Transduct Res. 1995 Jan-Mar;15(1-4):131-60. doi: 10.3109/10799899509045213.

Abstract

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.

Publication types

  • Review

MeSH terms

  • Amino Acid Sequence
  • Animals
  • GTP-Binding Proteins / metabolism*
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / metabolism*
  • Humans
  • Molecular Sequence Data
  • Molecular Structure
  • Mutation*
  • Receptors, Cell Surface / chemistry
  • Receptors, Cell Surface / classification
  • Receptors, Cell Surface / genetics*
  • Receptors, Pituitary Hormone / genetics
  • Receptors, Vasopressin / genetics
  • Rod Opsins / metabolism
  • Signal Transduction

Substances

  • Receptors, Cell Surface
  • Receptors, Pituitary Hormone
  • Receptors, Vasopressin
  • Rod Opsins
  • MSH receptor
  • GTP-Binding Proteins