G protein/A0051

The GNAS gene encodes the alpha subunit of the G stimulatory protein, also known as A0051.

The GNAS gene encodes the alpha subunit of the G stimulatory protein, also known as A0051. G proteins transduce extracellular signals received by transmembrane receptors to effector proteins. Each G protein is a heterotrimer composed of an alpha, beta, and gamma subunit. Inactivating loss-of-function mutations in the Gnas gene result in pseudohypoparathyroidism, a heterogeneous group of disorders whose common feature is resistance to parathyroid hormone. A polymorphism in a splice isoform of the gene has been associated with prolonged bleeding time accompanied by neurologic problems, brachydactyly, and a variable degree of mental retardation. Mutant mice stop developing normally by embryonic day 10.5 and die prenatally. Heterozygotes a number of phenotypes including behavioral abnormalities: abnormal responses to new environments, hyperactivity, decreased alcohol consumption and sensitivity to the effects of alcohol.