ea0028oc1.2 | Young Endocrinologists prize session | SFEBES2012
Hannan Fadil
, Nesbit M Andrew
, Zhang Chen
, Cranston Treena
, Christie Paul
, Fratter Carl
, Brown Edward
, Yang Jenny
, Thakker Rajesh
The calcium-sensing receptor (CaSR) is a G protein-coupled receptor with an extracellular bilobed venus flytrap domain (VFTD) predicted to contain five calcium-binding sites. The major site for calcium-binding is comprised of amino acid residues that line the cleft between the two lobes of the VFTD. We investigated the structure-function relationships of VFTD CaSR mutations identified in patients with familial hypocalciuric hypercalcaemia (FHH), neonatal severe primary hyperpa...