RGS3
Description
The RGS3 (regulator of G protein signaling 3) is a protein-coding gene located on chromosome 9.
RGS3, encoded by the RGS3 gene, is a member of the regulator of G-protein signaling (RGS) family. It functions as a GTPase activating protein, inhibiting G-protein mediated signal transduction. RGS3 is mainly localized in the cytosol but translocates to the plasma membrane upon G-protein activation. A nuclear form of RGS3 has been reported, but its sequence remains unidentified. Multiple alternatively spliced transcript variants have been described for RGS3, but the full-length nature of some transcripts is still unknown.
RGS3 downregulates signaling from heterotrimeric G-proteins by increasing the GTPase activity of the alpha subunits, thereby driving them into their inactive GDP-bound form. It also downregulates G-protein-mediated release of inositol phosphates and activation of MAP kinases.
RGS3 is also known as C2PA, RGP3.
Associated Diseases
- common variable immunodeficiency
- immunodeficiency 75
- immunodeficiency 72 with autoinflammation
- isolated agammaglobulinemia
