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GNA11 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.
Gene Name: | guanine nucleotide binding protein (G protein), alpha 11 (Gq class) |
Synonyms: | GNA11, G-protein subunit alpha-11, GA11, GNA-11, G alpha-11 |
Target Sequences: | NM_002067 NP_002058.2 P29992 |
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