Its main product is the heterotrimeric G-protein alpha subunit Gs-α, a key component of G protein-coupled receptor-regulated adenylyl cyclase signal transduction pathways.
[6][7] The GNAS locus is imprinted and encodes 5 main transcripts: Alternative splicing of downstream exons is also observed, which results in different forms of the Gs-α, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular responses.
Traditional G protein-coupled receptor signaling proceeds primarily through Gsα-long and Gsα-short, the most abundant, ubiquitously-expressed protein products of this gene.
[15] Mutations in the repeat region of the XL exon leads to a hyperactive form of XLas due to lowered interaction with ALEX.
[20] G protein-coupled receptor-activated Gsα binds to the enzyme adenylyl cyclase, increasing its rate of conversion of ATP to cyclic AMP.