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A paper in the New England Journal of Medicine, from Prof Raj Thakker’s group (OCDEM), identifies human germline mutations in GNA11, the gene encoding the G-protein subunit alpha 11 protein.

Double immunofluorescent labelling of BCL11A (red) and CD3 (green) proteins in thymus © Permission must be obtained from Alison Banham (alison.banham@ndcls.ox.ac.uk) before use.
Double immunofluorescent labelling of BCL11A (red) and CD3 (green) proteins in thymus

G alpha 11 mutants with loss of function cause familial hypocalciuric hypercalcemia type 2, and Ga11 mutants with gain of function cause a clinical disorder designated as autosomal dominant hypocalcemia type 2. This study demonstrates the pivotal role of G alpha 11 in calcium-sensing receptor-mediated signal transduction and extra-cellular calcium homeostasis in humans.


The full paper is available.

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