| Entrez Gene ID |
2767 |
| Official Gene Symbol |
GNA11 (GeneCards) |
| Full name |
G protein subunit alpha 11 |
| Location |
19p13.3 |
| Other ids |
Vega : OTTHUMG00000180631
MIM : 139313
HGNC : HGNC:4379
Ensembl : ENSG00000088256
|
| Other names |
FBH,
FBH2,
FHH2,
HHC2,
GNA-11,
HYPOC2
|
| 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] |