基因名:
GNB3
产品别名:
CSNB1H; HG2D; GNB3; G protein subunit beta 3; G protein subunit beta 3; guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3; G protein, beta-3 subunit; GTP-binding regulatory protein beta-3 chain; guanine nucleotide binding protein (G protein), beta polypeptide 3; guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 3; heterotrimeric guanine nucleotide-binding protein 2D; hypertension associated protein; transducin beta chain 3; G蛋白β3+O16328;
背景信息:
G proteins are composed of 3 units, alpha, beta and gamma and are involved in the modulation and transduction of various transmembrane signalling systems. There are families of related genes for each subunit. GNB3 encodes a beta subunit. Beta subunits are required for GTPase activity, for replacement of GDP by GTP, regulate alpha subunits and for G protein-effector interactions. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity and is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity.