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Overview
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Gene Accession: BC112236
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Background
CASR (Calcium Sensing Receptor) is a Protein Coding gene. Diseases associated with CASR include Hypocalcemia, Autosomal Dominant and Hyperparathyroidism, Neonatal. Among its related pathways are Proton Pump Inhibitor Pathway, Pharmacodynamics and Peptide ligand-binding receptors. GO annotations related to this gene include G-protein coupled receptor activity and protein kinase binding. An important paralog of this gene is GPRC6A.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.
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