Mutations in the Gs alpha gene causing hormone resistance.

  title={Mutations in the Gs alpha gene causing hormone resistance.},
  author={Giovanna Mantovani and Anna Spada},
  journal={Best practice & research. Clinical endocrinology & metabolism},
  volume={20 4},
G-protein-coupled receptors (GPCRs) and G proteins mediate the effects of a number of hormones of relevance to endocrinology. Genes encoding these molecules may be targets of loss- or gain-of-function mutations, resulting in endocrine disorders. The only mutational change of G proteins so far unequivocally associated with endocrine disorders occurs in the Gsalpha gene (GNAS1, guanine nucleotide binding protein alpha stimulating activity polypeptide 1), which activates cyclic AMP (cAMP… CONTINUE READING


Publications citing this paper.
Showing 1-10 of 30 extracted citations

Similar Papers

Loading similar papers…