靶标:
GNA11
产品别名:
FBH; FBH2; FHH2; GNA-11; HG1K; HHC2; HYPOC2; GNA11; G protein subunit alpha 11; G protein subunit alpha 11; guanine nucleotide-binding protein subunit alpha-11; g alpha-11; guanine nucleotide binding protein (G protein), alpha 11 (Gq class); guanine nucleotide-binding protein G(y) subunit alpha; heterotrimeric guanine nucleotide-binding protein 1K; G蛋白α11(GNa11); G蛋白偶联受体结合蛋白α11/Gα11;
背景信息:
The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013],