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GNAQ

Friday 29 April 2016

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Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the GNAQ gene. Together with GNA11 (its paralogue), it functions as a Gq alpha subunit.

Pathology

- mutated in melanocytic tumors

- Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis. (26778290)

Open references

- Genetic profile of GNAQ-mutated blue melanocytic neoplasms reveals mutations in genes linked to genomic instability and the PI3K pathway. Pérez-Alea M, Vivancos A, Caratú G, Matito J, Ferrer B, Hernandez-Losa J, Cortés J, Muñoz E, Garcia-Patos V, Recio JA. Oncotarget. 2016 Apr 4. doi : 10.18632/oncotarget.8578 PMID: 27057633 (Free)

- Clinical Management of Uveal and Conjunctival Melanoma. Blum ES, Yang J, Komatsubara KM, Carvajal RD. Oncology (Williston Park). 2016 Jan;30(1):29-32, 34-43, 48. PMID: 26791842 (Free)

- Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. Thomas AC, Zeng Z, Rivière JB, O’Shaughnessy R, Al-Olabi L, St-Onge J, Atherton DJ, Aubert H, Bagazgoitia L, Barbarot S, Bourrat E, Chiaverini C, Chong WK, Duffourd Y, Glover M, Groesser L, Hadj-Rabia S, Hamm H, Happle R, Mushtaq I, Lacour JP, Waelchli R, Wobser M, Vabres P, Patton EE, Kinsler VA. J Invest Dermatol. 2016 Apr;136(4):770-8. doi : 10.1016/j.jid.2015.11.027 PMID: 26778290 (Free)