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...
Topics
- Humans
- Hypercalcemia
- Hypocalcemia
- Hypoparathyroidism
- Mutation
- Receptors, Calcium-Sensing
- Water-Electrolyte Balance