Gene:
calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)
Gene ID:
193197
Symbol:
CASR
Species:
1000
Description:
The calcium-sensing receptor (CASR) functions as a sensor for parathyroid and kidney to determine the extracellular calcium concentration and thus helps to maintain a stable calcium concentration. Mutations that inactivate CASR cause familial hypocalciuric hypercalcemia, whereas mutations that activate CASR are the cause of autosomal dominant hypocalcemia. An altenatively spliced transcript variant encoding 1088 aa has been found for this gene, but its full-length nature has not been defined.