Physiological dysfunctions associated with mutations of the imprinted Gnas locus.
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.
Krechowec
Stefan
S
Physiological Laboratory, School of Biomedical Sciences, University of Liverpool, Liverpool, United Kingdom.
Plagge
Antonius
A
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*
D002864:Chromogranins; C406732:GNAS protein, human; C498642:Gnas protein, mouse; D019205:GTP-Binding Protein alpha Subunits, Gs