Article

<i>Ap2s1</i> mutation in mice causes familial hypocalciuric hypercalcemia type 3

2020-08-10

Abstract excerpt

Mutations of the adaptor protein-2 sigma subunit ( AP2S1 ) gene which encodes AP2σ2, a component of the ubiquitous AP2 heterotetrameric complex involved in endosomal trafficking of the calcium-sensing receptor (CaSR), cause familial hypocalciuric hypercalcemia type 3 (FHH3). FHH3 patients have heterozygous AP2S1 missense Arg15 mutations (p.Arg15Cys, p.Arg15His or p.Arg15Leu) with marked hypercalcemia and occasio...

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Literature Corpus work: 5aae821c-f319-57db-ad09-e4bcc7c644f5
DOI: 10.1101/2020.08.10.244244

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