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Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2

Abstract:

Adaptor protein 2 (AP2), a heterotetrameric complex comprising AP2α, AP2β2, AP2μ2 and AP2σ2 subunits, is ubiquitously expressed and involved in endocytosis and trafficking of membrane proteins, such as the calcium-sensing receptor (CaSR), a G-protein coupled receptor that signals via Gα11. Mutations of CaSR, Gα11 and AP2σ2, encoded by AP2S1, cause familial hypocalciuric hypercalcaemia types 1–3 (FHH1–3), respectively. FHH3 patients have heterozygous AP2S1 missense Arg15 mutations (p.Arg15Cys,...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1093/hmg/ddab076

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Institution:
University of Oxford
Division:
MSD
Sub department:
Women's & Reproductive Health
Role:
Author
ORCID:
0000-0002-2975-5170
Publisher:
Oxford University Press
Journal:
Human Molecular Genetics More from this journal
Volume:
30
Issue:
10
Pages:
880–892
Publication date:
2021-03-17
Acceptance date:
2021-02-26
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Language:
English
Keywords:
Pubs id:
1168480
Local pid:
pubs:1168480
Deposit date:
2021-03-18

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