Research
1 July 2013
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.
©
Permission must be obtained from Alison Banham (alison.banham@ndcls.ox.ac.uk) before use.
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.
