Article
The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins.
Proceedings of the National Academy of Sciences of the United States of America - 18 Aug 1998
Hayward B E, Kamiya M, Strain L, Moran V, Campbell R, Hayashizaki Y, Bonthron D T
Abstract excerpt
The GNAS1 gene encodes the alpha subunit of the G protein Gs, which couples receptor binding by several hormones to activation of adenylate cyclase. Null mutations of GNAS1 cause pseudohypoparathyroidism (PHP) type Ia, in which hormone resistance occurs in association with a characteristic osteodystrophy. The observation that PHP Ia almost always is inherited maternally has led to the suggestion that GNAS1 may be...
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