Activating and inactivating mutations in the human GNAS1 gene.

Abstract excerpt

GNAS1 on chromosome 20 is a complex locus, encoding multiple proteins, of which G(s)alpha, the alpha-subunit of the heterotrimeric stimulatory G protein G(s), is of particular interest clinically. Amino acid substitutions at two specific codons lead to constitutive activation of G(s)alpha. Such gain-of-function mutations are found in a variety of sporadic endocrine tumors and in McCune-Albright syndrome, a...

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