GENETIC ENCYCLOPEDIA
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gene: CASR

id846
symbolCASR
organismHomo sapiens
full namecalcium sensing receptor
summaryThe protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017]
variant-disease

NM_000388.4(CASR):c.554G>A (p.Arg185Gln) AND Neonatal severe hyperparathyroidism

NM_000388.4(CASR):c.2043G>T (p.Gln681His) AND Hypocalcemia, autosomal dominant 1

NM_000388.4(CASR):c.571G>A (p.Glu191Lys) AND Hypocalcemia, autosomal dominant 1

NM_000388.4(CASR):c.680G>A (p.Arg227Gln) AND Hypocalciuric hypercalcemia, familial, type 1

NM_000388.4(CASR):c.1846C>G (p.Leu616Val) AND Hypocalcemia, autosomal dominant 1

... 897 more


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