Automated description from the Alliance of Genome Resources (Release 7.0.0)
Predicted to enable several functions, including ion binding activity; protein homodimerization activity; and transmembrane transporter binding activity. Acts upstream of or within positive regulation of gene expression and regulation of calcium ion transport. Predicted to be located in several cellular components, including apical plasma membrane; basolateral plasma membrane; and neuronal cell body. Is expressed in several structures, including branchial pouch; central nervous system; lung; metanephros; and superior cervical ganglion. Used to study autosomal dominant hypocalcemia 1; familial hypocalciuric hypercalcemia 1; and hyperparathyroidism. Human ortholog(s) of this gene implicated in several diseases, including autosomal dominant hypocalcemia (multiple); hypercalcemia (multiple); hyperparathyroidism (multiple); idiopathic generalized epilepsy 8; and nephrolithiasis (multiple). Orthologous to human CASR (calcium sensing receptor).