Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

doi:10.1210/jc.2013-3909

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Article

Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

The Journal of clinical endocrinology and metabolism - 1 Jul 2014

Rogers Angela, Nesbit M Andrew, Hannan Fadil M, Howles Sarah A, Gorvin Caroline M, Cranston Treena, Allgrove Jeremy, Bevan John S, Bano Gul, Brain Caroline, Datta Vipan, Grossman Ashley B, Hodgson Shirley V, Izatt Louise, Millar-Jones Lynne, Pearce Simon H, Robertson Lisa, Selby Peter L, Shine Brian, Snape Katie, Warner Justin, Thakker Rajesh V

Abstract excerpt

CONTEXT: Autosomal dominant hypocalcemia (ADH) types 1 and 2 are due to calcium-sensing receptor (CASR) and G-protein subunit-α11 (GNA11) gain-of-function mutations, respectively, whereas CASR and GNA11 loss-of-function mutations result in familial hypocalciuric hypercalcemia (FHH) types 1 and 2, respectively. Loss-of-function mutations of adaptor protein-2 sigma subunit (AP2σ 2), encoded by AP2S1, cause FHH3,...

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Identifiers

PMID: 24708097
DOI: 10.1210/jc.2013-3909
PMCID: PMC4447854

Genes

CASR
GNA11
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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