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Normal Function
The GNAI3 gene provides instructions for making one component, the inhibitory alpha subunit, of a protein complex called a guanine nucleotide-binding protein (G protein). G proteins are composed of three protein subunits: alpha, beta, and gamma. Each of these subunits is produced from a different gene.
Through a process called signal transduction, G proteins trigger a complex network of signaling pathways within cells. These pathways help transmit information from outside the cell to inside the cell. Specifically, G proteins made with the GNAI3 inhibitory alpha subunit reduce (inhibit) the activity of an enzyme called adenylyl cyclase, which is an important chemical messenger within cells. G protein signaling ultimately influences many cell activities, instructing the cell to grow, divide, or take on specialized functions.
Studies suggest that G protein signaling involving the GNAI3 inhibitory alpha subunit contributes to the development of the first and second pharyngeal arches. These embryonic structures ultimately develop into the jawbones, facial muscles, middle ear bones, ear canals, outer ears, and related tissues.
Health Conditions Related to Genetic Changes
Auriculo-condylar syndrome
At least two mutations in the GNAI3 gene have been found to cause auriculo-condylar syndrome, a disorder that primarily affects the development of the ears and lower jaw (mandible). The identified mutations change single protein building blocks (amino acids) in the inhibitory alpha subunit. These mutations likely alter the structure of the inhibitory alpha subunit and impair G protein signaling. Abnormal signaling alters the formation of the lower jaw: instead of developing normally, the lower jaw becomes shaped more like the smaller upper jaw (maxilla). The abnormal shape leads to an unusually small chin (micrognathia) and problems with jaw function. Researchers are working to determine how mutations in this gene lead to the other developmental abnormalities associated with auriculo-condylar syndrome.
More About This Health ConditionOther Names for This Gene
- 87U6
- ARCND1
- g(i) alpha-3
- GNAI3_HUMAN
- guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
- guanine nucleotide-binding protein G(k) subunit alpha
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Baron B, Fernandez MA, Toledo F, Le Roscouet D, Mayau V, Martin N, Buttin G, Debatisse M. The highly conserved Chinese hamster GNAI3 gene maps less than 60 kb from the AMPD2 gene and lacks the intronic U6 snRNA present in its human counterpart. Genomics. 1994 Nov 15;24(2):288-94. doi: 10.1006/geno.1994.1618. Citation on PubMed
- Blatt C, Eversole-Cire P, Cohn VH, Zollman S, Fournier RE, Mohandas LT, Nesbitt M, Lugo T, Jones DT, Reed RR, et al. Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human. Proc Natl Acad Sci U S A. 1988 Oct;85(20):7642-6. doi: 10.1073/pnas.85.20.7642. Citation on PubMed or Free article on PubMed Central
- Gordon CT, Vuillot A, Marlin S, Gerkes E, Henderson A, AlKindy A, Holder-Espinasse M, Park SS, Omarjee A, Sanchis-Borja M, Bdira EB, Oufadem M, Sikkema-Raddatz B, Stewart A, Palmer R, McGowan R, Petit F, Delobel B, Speicher MR, Aurora P, Kilner D, Pellerin P, Simon M, Bonnefont JP, Tobias ES, Garcia-Minaur S, Bitner-Glindzicz M, Lindholm P, Meijer BA, Abadie V, Denoyelle F, Vazquez MP, Rotky-Fast C, Couloigner V, Pierrot S, Manach Y, Breton S, Hendriks YM, Munnich A, Jakobsen L, Kroisel P, Lin A, Kaban LB, Basel-Vanagaite L, Wilson L, Cunningham ML, Lyonnet S, Amiel J. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. J Med Genet. 2013 Mar;50(3):174-86. doi: 10.1136/jmedgenet-2012-101331. Epub 2013 Jan 12. Citation on PubMed
- Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML. A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. Am J Hum Genet. 2012 May 4;90(5):907-14. doi: 10.1016/j.ajhg.2012.04.002. Citation on PubMed or Free article on PubMed Central
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