Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
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.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

Orphanet article

Orphanet ID 360224 external link
14.

NCBI article

NCBI 2767 external link
15.

OMIM.ORG article

Omim 139313 external link
16.

Wikipedia article

Wikipedia EN (GNA11) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues