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GNAS Mutation

Meaning

A GNAS Mutation refers to a genetic alteration within the GNAS complex locus, a gene that encodes for the alpha subunit of the stimulatory G protein, known as Gsα. This protein is a crucial component in the cellular signaling pathways for numerous hormones, including TSH, PTH, and ACTH. Depending on the specific mutation and its parental origin, this defect can lead to either constitutive over-activation or functional inactivation of the downstream hormonal signal.