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Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.

Abstract:

The adaptor protein-2 sigma subunit (AP2σ2) is pivotal for clathrin-mediated endocytosis of plasma membrane constituents such as the calcium-sensing receptor (CaSR). Mutations of the AP2σ2 Arg15 residue result in familial hypocalciuric hypercalcaemia type 3 (FHH3), a disorder of extracellular calcium (Ca(2+) o) homeostasis. To elucidate the role of AP2σ2 in Ca(2+) o regulation, we investigated 65 FHH probands, without other FHH-associated mutations, for AP2σ2 mutations, characterized their fu...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1093/hmg/ddv226

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, NDORMS
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
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Medical Research Council More from this funder
National Institute for Health Research Oxford Biomedical Research Centre More from this funder
Wellcome Trust More from this funder
Publisher:
Oxford University Press Publisher's website
Journal:
Human molecular genetics Journal website
Volume:
24
Issue:
18
Pages:
5079-5092
Publication date:
2015-09-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:d3dd5889-ab82-4cbd-aaba-067d02118820
Source identifiers:
527700
Local pid:
pubs:527700
Language:
English

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