Article
A region in the seven-transmembrane domain of the human Ca2+ receptor critical for response to Ca2+.
The Journal of biological chemistry - 11 Feb 2005
Hu Jianxin, McLarnon Stuart J, Mora Stefano, Jiang Jiankang, Thomas Craig, Jacobson Kenneth A, Spiegel Allen M
Abstract excerpt
Of 12 naturally occurring, activating mutations in the seven-transmembrane (7TM) domain of the human Ca2+ receptor (CaR) identified previously in subjects with autosomal dominant hypocalcemia (ADH), five appear at the junction of TM helices 6 and 7 between residue Ile819 and Glu837. After identifying a sixth activating mutation in this region, V836L, in an ADH patient, we studied the remaining residues in this...
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