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

[familial hypocalciuric hypercalcemia]

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 3 q 21 .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 are familial hypocalciuric hypercalcemia (FHH ), neonatal severe hyperparathyroidism and primary hyperparathyroidism . Gain-of-function mutations , on the other hand , result in the hypocalcemic disorders of autosomal dominant hypocalcemia and Bartter syndrome type V . Moreover , autoantibodies directed against the extracellular domain of the CaSR have been found to be associated with FHH in some patients , and also in some patients with hypoparathyroidism that may be part of autoimmune polyglandular syndrome type 1 . Studies of disease-causing CASR mutations have provided insights into structure-function relationships and highlighted intra-molecular domains that are critical for ligand binding , intracellular signaling , and receptor trafficking .

Diseases
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Diseases presenting "and also in some patients with hypoparathyroidism that may be part of autoimmune polyglandular syndrome type 1" symptom

familial hypocalciuric hypercalcemia

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