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Article

A novel mutation of the primary protein kinase C phosphorylation site in the calcium-sensing receptor causes autosomal dominant hypocalcemia.

European journal of endocrinology - 1 Mar 2011

Lazarus Syndia, Pretorius Carel J, Khafagi Frederick, Campion Katherine L, Brennan Sarah C, Conigrave Arthur D, Brown Edward M, Ward Donald T

Abstract excerpt

OBJECTIVE: The calcium-sensing receptor (CASR) is a key controller of calcium homeostasis by regulating parathyroid hormone (PTH) secretion and renal calcium reabsorption. CASR(T888) is a protein kinase C (PKC) phosphorylation site in the receptor's intracellular domain that has previously been identified as a critical negative regulator of CASR downstream signaling in vitro, but whose importance in vivo is...

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Source

Identifiers

PMID: 21135065
DOI: 10.1530/EJE-10-0907

Genes

CASR
PTH

Variants

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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