Article
Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.
Human molecular genetics - 1 Mar 2018
Gorvin Caroline M, Metpally Raghu, Stokes Victoria J, Hannan Fadil M, Krishnamurthy Sarath B, Overton John D, Reid Jeffrey G, Breitwieser Gerda E, Thakker Rajesh V
Abstract excerpt
Mutations of the sigma subunit of the heterotetrameric adaptor-related protein complex 2 (AP2σ) impair signalling of the calcium-sensing receptor (CaSR), and cause familial hypocalciuric hypercalcaemia type 3 (FHH3). To date, FHH3-associated AP2σ mutations have only been identified at one residue, Arg15. We hypothesized that additional rare AP2σ variants may also be associated with altered CaSR function and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.