DISEASES

Disease-gene associations mined from literature

Literature associating CASR and Bartter disease

CASR [ENSP00000420194]

Parathyroid cell calcium-sensing receptor 1; G-protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis. Senses fluctuations in the circulating calcium concentration and modulates the production of parathyroid hormone (PTH) in parathyroid glands (By similarity). The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol- calcium second messenger system. The G-protein- coupled receptor activity is activated by a co-agonist mechanism: aromatic amino acids, such as Trp or Phe, act concertedly with divalent cations, such as calcium or magnesium, to achieve full receptor activation.

Synonyms:  CASR,  CASR-001,  CASR-002,  CASR-003,  E7ENE0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM