Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Guanine nucleotide binding protein, alpha 11

The GNA11 gene encodes a component of G-protein coupled receptors which is involved in signal transduction from calcium sensing receptors. Inactivating mutations are responsible for autosomal dominant hypocalciuric hypercalcemia type 2 while activating mutation cause autosomal dominant hypocalcemia 2.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Familial hypocalciuric hypercalcemia type 2
GNA11
Hypercalciuric hypocalcemia 2
GNA11
Hyperparathyroidism
AP2S1
CASR
CDC73
Familial Isolated Hyperparathyroidism
GCM2
GNA11
Hypoparathyroidism
AP2S1
CASR
GCM2
GNA11
Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
GATA3
Hypoparathyroidism-retardation-dysmorphism syndrome
TBCE
Kenny-Caffey syndrome
TBCE
PTH

References:

1.

Wilkie TM et al. (1992) Evolution of the mammalian G protein alpha subunit multigene family.

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2.

Heath H et al. (1992) Genetic linkage analysis in familial benign hypercalcemia using a candidate gene strategy. I. Studies in four families.

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3.

Van Raamsdonk CD et al. (2004) Effects of G-protein mutations on skin color.

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4.

Kero J et al. (2007) Thyrocyte-specific Gq/G11 deficiency impairs thyroid function and prevents goiter development.

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5.

Wirth A et al. (2008) G12-G13-LARG-mediated signaling in vascular smooth muscle is required for salt-induced hypertension.

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6.

Jiang M et al. (1991) Guanine nucleotide-binding regulatory proteins in retinal pigment epithelial cells.

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7.

Strathmann MP et al. (1991) G alpha 12 and G alpha 13 subunits define a fourth class of G protein alpha subunits.

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8.

Van Raamsdonk CD et al. (2010) Mutations in GNA11 in uveal melanoma.

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9.

Nesbit MA et al. (2013) Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

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10.

Mannstadt M et al. (2013) Germline mutations affecting Gα11 in hypoparathyroidism.

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11.

Davignon I et al. (1996) Gene structure of murine Gna11 and Gna15: tandemly duplicated Gq class G protein alpha subunit genes.

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12.

Offermanns S et al. (1998) Embryonic cardiomyocyte hypoplasia and craniofacial defects in G alpha q/G alpha 11-mutant mice.

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Update: Sept. 26, 2018