Fadil M Hannan, Sarah A Howles, Angela Rogers, Treena Cranston, Caroline M Gorvin, Valerie N Babinsky, Anita A Reed, Clare E Thakker, Detlef Bockenhauer, Rosalind S Brown, John M Connell, Jacqueline Cook, Ken Darzy, Sarah Ehtisham, Una Graham, Tony Hulse, Steven J Hunter, Louise Izatt, Dhavendra Kumar, Malachi J McKenna, John A McKnight, Patrick J Morrison, M Zulf Mughal, Domhnall O'Halloran, Simon H Pearce, Mary E Porteous, Mushtaqur Rahman, Tristan Richardson, Robert Robinson, Isabelle Scheers, Haroon Siddique, William G Van't Hoff, Timothy Wang, Michael P Whyte, M Andrew Nesbit, Rajesh V Thakker
The adaptor protein-2 sigma subunit (AP2σ2) is pivotal for clathrin-mediated endocytosis of plasma membrane constituents such as the calcium-sensing receptor (CaSR). Mutations of the AP2σ2 Arg15 residue result in familial hypocalciuric hypercalcaemia type 3 (FHH3), a disorder of extracellular calcium (Ca(2+) o) homeostasis. To elucidate the role of AP2σ2 in Ca(2+) o regulation, we investigated 65 FHH probands, without other FHH-associated mutations, for AP2σ2 mutations, characterized their functional consequences and investigated the genetic mechanisms leading to FHH3...
September 15, 2015: Human Molecular Genetics