Article
Naturally-occurring mutation in the calcium-sensing receptor reveals the significance of extracellular domain loop III region for class C G-protein-coupled receptor function.
The Journal of clinical endocrinology and metabolism - 1 Oct 2010
Dong Qing, Cheng Zhiqiang, Chang Wenhan, Blackman Brigitte E, Conte Felix A, Hu Jianxin, Shoback Dolores, Miller Walter L
Abstract excerpt
CONTEXT: Inactivating mutations of the calcium-sensing receptor (CaSR) cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Most mutations are clustered in the N-terminal and Cys-rich regions of the extracellular domain (ECD) and seven-transmembrane domain. Disease-causing mutations are uncommon in the C terminus of ECD. OBJECTIVE: The aim of the study was to characterize the CaSR...
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