Synthetic peptide directed towards the N terminal of human Rgs10
Biochem/physiol Actions
Rgs10 inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Rgs10 associates specifically with the activated forms of the G protein subunits G(i)-alpha and G(z)-alpha but fails to interact with the structurally and functionally distinct G(s)-alpha subunit. Activity of Rgs10 on G(z)-alpha is inhibited by palmitoylation of the G-protein.
Sequence
Synthetic peptide located within the following region: MFTRAVSRLSRKRPPSDIHDGDGSSSSGHQSLKSTAKWASSLENLLEDPE
Physical form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
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We report the clinical and molecular phenotype of three siblings from one family, who presented with short stature and immunodeficiency and carried uncharacterized variants in RGS10 (c.489_491del:p.E163del and c.G511T:p.A171S). This gene encodes regulator of G protein signaling 10 (RGS10), a
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