Mar 30, 2025 · AP2S1 (Adaptor Related Protein Complex 2 Subunit Sigma 1) is a Protein Coding gene. Diseases associated with AP2S1 include Hypocalciuric Hypercalcemia, Familial, Type Iii …

AP-2 complex subunit sigma is a protein that in humans is encoded by the AP2S1 gene. [5][6][7] One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is …

Here, we show that AP2 sigma subunit (AP2S1) missense mutations, which all involved the Arg15 residue (Arg15Cys, Arg15His and Arg15Leu) that forms key contacts with dileucine-based …

May 5, 2021 · Mutations of CaSR, Gα 11 and AP2σ2, encoded by AP2S1, cause familial hypocalciuric hypercalcaemia types 1–3 (FHH1–3), respectively. FHH3 patients have …

AP2S1 is the sigma 2 subunit of adaptor protein 2 (AP2) that is essential for endocytosis. In this study, we investigated the potential role of AP2S1 in intracellular processing of amyloid …

AP2S1 mutations decreased the sensitivity of CaSR-expressing cells to extracellular calcium and reduced CaSR endocytosis, probably through loss of interaction with a C-terminal CaSR …

AP2S1 regulates APP degradation through late endosome-lysosome fusion in cells and APP/PS1 mice. Mechanism of p38 MAPK-induced EGFR endocytosis and its crosstalk with ligand …

Dec 10, 2024 · Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism. Mutations in AP2S1 cause familial hypocalciuric hypercalcemia …

Oct 14, 2021 · Analysis of AP2S1 in 50 unrelated patients with hypocalciuric hypercalcemia revealed 11 who were heterozygous for AP2S1 mutations, all of which involved the R15 …

The adaptor protein‐2 sigma subunit (AP2σ), encoded by AP2S1, forms a heterotetrameric complex, with AP2α, AP2β, and AP2μ subunits, that is pivotal for clathrin‐mediated …