Article
Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2.
Human molecular genetics - 29 May 2021
Hannan Fadil M, Stevenson Mark, Bayliss Asha L, Stokes Victoria J, Stewart Michelle, Kooblall Kreepa G, Gorvin Caroline M, Codner Gemma, Teboul Lydia, Wells Sara, Thakker Rajesh V
Abstract excerpt
Adaptor protein 2 (AP2), a heterotetrameric complex comprising AP2α, AP2β2, AP2μ2 and AP2σ2 subunits, is ubiquitously expressed and involved in endocytosis and trafficking of membrane proteins, such as the calcium-sensing receptor (CaSR), a G-protein coupled receptor that signals via Gα11. Mutations of CaSR, Gα11 and AP2σ2, encoded by AP2S1, cause familial hypocalciuric hypercalcaemia types 1-3 (FHH1-3),...
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