RGS18
Description
The RGS18 (regulator of G protein signaling 18) is a protein-coding gene located on chromosome 1.
RGS18 (Regulator of G-protein signaling 18) is a protein encoded by the RGS18 gene. It belongs to the regulator of G-protein signaling family and contains a conserved 120 amino acid motif called the RGS domain. RGS18 attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Several RGS18 alleles that result in reduced RGS18 expression are associated with the development of atherosclerosis. Two single nucleotide polymorphisms in the RGS18 gene that interfere with binding of GATA1 and NFE2 transcription factors result in decreased expression of RGS18. RSG18 Knockout mice display an exaggerated platelet reactivity which in turn increases risk of developing atherosclerosis. A minor allele of RSG18 is associated with the appearance of thrombotic phenomena in a cohort of European-American and African-American patients. RGS18 has been shown to interact with GNAI3.
RGS18 is also known as RGS13.
Associated Diseases
- ovarian cancer
- thrombocytopenia 7
- bleeding disorder, platelet-type, 24
- platelet-type von Willebrand disease
- autosomal dominant macrothrombocytopenia
- Glanzmann thrombasthenia 1
- platelet-type bleeding disorder 10
- platelet-type bleeding disorder 15
- beta-thalassemia-X-linked thrombocytopenia syndrome
- autosomal dominant nonsyndromic hearing loss 1
- platelet-type bleeding disorder 11
- platelet-type bleeding disorder 18
