Rajesh Thakker and colleagues show that missense mutations affecting codon 15 of AP2S1 cause familial hypocalciuric hypercalcemia type 3, a disorder of calcium homeostasis. AP2S1 encodes a protein involved in clathrin-mediated endocytosis, and the mutations probably cause disease by disrupting internalization of the calcium-sensing receptor CaSR.
- M Andrew Nesbit
- Fadil M Hannan
- Rajesh V Thakker
