GNG12 is involved in various signaling pathways as a modulator or transducer. The beta and gamma subunits of G proteins, including GNG12, are essential for the GTPase activity, the replacement of GDP by GTP, and the interaction with G protein effectors . This protein is particularly important in the G protein-coupled receptor (GPCR) signaling pathway, which is involved in numerous physiological processes .
The GNG12 protein plays a significant role in the regulation of several cellular processes. It is involved in the production of anti-inflammatory cytokines through the ADORA2B-mediated pathway and thromboxane signaling through the TP receptor . Additionally, GNG12 is located in extracellular exosomes, which are small vesicles involved in cell communication and the transfer of molecules between cells .
Mutations or dysregulation of the GNG12 gene can be associated with various diseases. For instance, it has been linked to intellectual developmental disorder, autosomal recessive 38, and holoprosencephaly 5 . Understanding the function and regulation of GNG12 is crucial for developing therapeutic strategies for these conditions.