RGS13
Description
The RGS13 (regulator of G protein signaling 13) is a protein-coding gene located on chromosome 1.
RGS13, encoded by the RGS13 gene, is a member of the R4 subfamily of the Regulator of G protein signaling (RGS) protein family. RGS13 suppresses immunoglobulin E-mediated allergic responses. Like other RGS proteins, it possesses a conserved RGS domain and functions by accelerating the GTPase activity of G protein alpha-subunits, transitioning them into their inactive GDP-bound form, effectively downregulating G protein signaling. The specific biological function of RGS13 remains unknown. Two transcript variants, encoding the same protein isoform, have been identified.
RGS13 inhibits signal transduction by accelerating the GTPase activity of G protein alpha subunits, leading to their inactive GDP-bound form. It interacts with both G(i)-alpha and G(q)-alpha.
RGS13 is also known as -.
Associated Diseases
- common variable immunodeficiency
- isolated agammaglobulinemia
- immunodeficiency 72 with autoinflammation
- BENTA disease
- classic Hodgkin lymphoma
- severe combined immunodeficiency due to CARD11 deficiency
- immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
- neutrophil immunodeficiency syndrome
- immunodeficiency 105
- combined immunodeficiency with skin granulomas
- immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
- immunodeficiency 18
- severe combined immunodeficiency due to CTPS1 deficiency
- hyper-IgM syndrome type 3
- short-limb skeletal dysplasia with severe combined immunodeficiency
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- immunodeficiency 62
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
