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Inborn errors of signal transduction: Mutations in G proteins and G protein‐coupled receptors as a cause of disease
Author(s) -
Spiegel A. M.
Publication year - 1997
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005393501786
Subject(s) - signal transduction , receptor , g protein , biology , g protein coupled receptor , transmembrane protein , microbiology and biotechnology , g alpha subunit , mutation , genetics , protein subunit , gene
A vast array of neurotransmitters, polypeptide hormones and other extracellular signalling molecules utilize G protein‐coupled pathways for transmembrane signalling. In recent years, mutations in G protein‐coupled receptors and in G protein α subunits have been identified as the cause of a variety of human diseases. Both loss and gain of function mutations have been described in disorders such as Albright hereditary osteodystrophy, nephrogenic diabetes insipidus, McCune‐Albright syndrome, and familial male precocious puberty. Identification of mutations in G protein‐coupled receptors and in G proteins in human diseases has provided unique insights into G protein‐coupled signal transduction, has important implications for diagnosis and potentially for treatment, and should stimulate the search for additional defects in G protein‐coupled signal transduction in other diseases.