CASR Antibody – Rabbit Polyclonal

The protein encoded by this gene is a G protein-coupled receptor that is expressed in the parathyroid hormone (PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism, and neonatal severe primary hyperparathyroidism. [provided by RefSeq, Jul 2008]

CaR: a G-protein coupled receptor that activates a phosphatidylinositol-calcium second messenger system. Functions as a calcium sensor for parathyroid and kidney to determine the extracellular calcium concentration and thus helps to maintain a stable calcium concentration. Two alternatively-spliced isoforms have been described.

Protein type: GPCR, family 3; Membrane protein, multi-pass; Motility/polarity/chemotaxis; Receptor, GPCR; Membrane protein, integral

Chromosomal Location of Human Ortholog: 3q13

Cellular Component: integral to plasma membrane; plasma membrane

Molecular Function: G-protein coupled receptor activity; protein binding; phosphoinositide phospholipase C activity

Biological Process: cellular calcium ion homeostasis; G-protein coupled receptor protein signaling pathway; anatomical structure morphogenesis; ossification; metabolic process; chemosensory behavior; detection of calcium ion

Disease: Hypocalciuric Hypercalcemia, Familial, Type I; Hyperparathyroidism, Neonatal Severe; Epilepsy, Idiopathic Generalized, Susceptibility To, 8; Hypocalcemia, Autosomal Dominant 1