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Article

Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

The New England journal of medicine - 27 Jun 2013

Nesbit M Andrew, Hannan Fadil M, Howles Sarah A, Babinsky Valerie N, Head Rosie A, Cranston Treena, Rust Nigel, Hobbs Maurine R, Heath Hunter, Thakker Rajesh V

Abstract excerpt

BACKGROUND: Familial hypocalciuric hypercalcemia is a genetically heterogeneous disorder with three variants: types 1, 2, and 3. Type 1 is due to loss-of-function mutations of the calcium-sensing receptor, a guanine nucleotide-binding protein (G-protein)-coupled receptor that signals through the G-protein subunit α11 (Gα11). Type 3 is associated with adaptor-related protein complex 2, sigma 1 subunit (AP2S1)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 23802516
DOI: 10.1056/NEJMoa1300253
PMCID: PMC3773604

Genes

GNA11
CASR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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