Title : Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.

Pub. Date : 2020 Mar 1

PMID : 31820785






2 Functional Relationships(s)
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1 CONTEXT: Autosomal dominant hypocalcemia types 1 and 2 (ADH1 and ADH2) are caused by germline gain-of-function mutations of the calcium-sensing receptor (CaSR) and its signaling partner, the G-protein subunit alpha11 (Galpha11), respectively. Calcium calcium sensing receptor Homo sapiens
2 Treatment of Ser66- and His149-Galpha11 expressing cells with the CaSR negative allosteric modulator NPS 2143 normalized Ca2+i and MAPK responses. Calcium calcium sensing receptor Homo sapiens