🧬 基因注释：CASR
📝 官方信息
官方名称：calcium sensing receptor
功能摘要：The 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].
🎯 作为靶基因的剪接因子
🏥 关联疾病
该基因暂无关联疾病记录