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GNA11 G protein subunit alpha 11

Gene ID: 2767, updated on 5-Jan-2022
Gene type: protein coding
Also known as: FBH; FBH2; FHH2; HG1K; HHC2; GNA-11; HYPOC2


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]

Associated conditions

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Hypocalcemia, autosomal dominant 2
MedGen: C3809243OMIM: 615361GeneReviews: Not available
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Hypocalciuric hypercalcemia, familial, type II
MedGen: C1840347OMIM: 145981GeneReviews: Not available
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Genomic context

Chromosome: 19; NC_000019.10 (3094362..3123999)
Total number of exons:


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