title: Physiological dysfunctions associated with mutations of the imprinted Gnas locus.
abstract: The ubiquitous Galphas-subunit of the trimeric, stimulatory G-protein plays a central role in receptor-mediated signal transduction, coupling receptor activation with the production of cAMP. The Galphas-encoding locus Gnas is now known to consist of a complex arrangement of several protein-coding and noncoding transcripts. We provide an overview of its genomic organization, its regulation by genomic imprinting, and a summary of the physiological roles of the alternative protein variants Galphas and XLalphas as determined from deficient mouse models.
authors.affiliation: Physiological Laboratory, School of Biomedical Sciences, University of Liverpool, Liverpool, United Kingdom.
authors.forename: Stefan
authors.initials: S
authors.lastname: Krechowec
authors.forename: Antonius
authors.initials: A
authors.lastname: Plagge
mesh_terms: D000818:Animals; D002864:Chromogranins; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics* / Q000378:metabolism; D018392:Genomic Imprinting / Q000502:physiology*; D006801:Humans; D051379:Mice; D009154:Mutation; D015398:Signal Transduction / Q000502:physiology*
chemical_list: D002864:Chromogranins; C406732:GNAS protein, human; C498642:Gnas protein, mouse; D019205:GTP-Binding Protein alpha Subunits, Gs