Article

Adaptor protein 2 sigma subunit (<i>AP2S1</i>) variants associated with neurodevelopmental disorders

2024-07-22

Abstract excerpt

Adaptor-Related Protein Complex 2 Sigma-1 Subunit ( AP2S1 ) encodes AP2σ2, which forms part of the heterotetrameric AP2 complex that is composed of α, β2, μ2, and σ2 subunits and has a pivotal role in clathrin-mediated endocytosis (CME) 1–3 . AP2S1 variants involving the Arg15 residue are associated with familial hypocalciuric hypercalcaemia type 3 (FHH3) 1,4–6 . Here, we report 5 different AP2S1 variants (AP2σ2:...

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Literature Corpus work: 999dc1da-209a-55b8-8e09-5c0ff97c9aea
DOI: 10.1101/2024.07.22.24310683

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