Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

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.