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Article

Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism.

Best practice & research. Clinical endocrinology & metabolism - 1 Jun 2013

Hannan Fadil M, Thakker Rajesh V

Abstract excerpt

The extracellular calcium-sensing receptor (CaSR) is a family C G-protein-coupled receptor (GPCR) that is expressed at multiple sites, including the parathyroids and kidneys. The human CASR gene, located on chromosome 3q21.1, encodes a 1078 amino acid protein. More than 230 different disease-causing mutations of the CaSR have been reported. Loss-of-function mutations lead to three hypercalcemic disorders, which...

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Source

Identifiers

PMID: 23856265
DOI: 10.1016/j.beem.2013.04.007

Genes

CASR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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