Gene Symbol | GNA11 |
Entrez Gene ID | 2767 |
Full Name | G protein subunit alpha 11 |
Synonyms | FBH,FBH2,FHH2,GNA-11,HHC2,HYPOC2 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Hypocalciuric hypercalcemia, type II, 145981 (3); Hypocalcemia, autosomal dominant 2, 615361 (3) |