10 papers analyzed
These studies suggest that mutations and variants in the calcium-sensing receptor (CASR) gene significantly influence calcium metabolism, leading to various disorders such as familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia, and also play a role in maintaining blood calcium homeostasis and responding to inflammation.
The calcium-sensing receptor (CASR) is a critical component in maintaining calcium homeostasis in the body. It is a G-protein-coupled receptor expressed in the parathyroid gland and kidney tubules, playing a significant role in regulating parathyroid hormone (PTH) secretion and renal calcium handling. Mutations and polymorphisms in the CASR gene can lead to various disorders related to calcium metabolism.
Role of CASR in Calcium Homeostasis:
Mutations and Associated Disorders:
Genetic Polymorphisms and Serum Calcium Levels:
CASR and Blood Pressure:
CASR and Inflammation:
The calcium-sensing receptor (CASR) plays a pivotal role in calcium homeostasis by regulating PTH secretion and renal calcium handling. Mutations in the CASR gene can lead to either hypercalcemic or hypocalcemic disorders, depending on whether the mutations are inactivating or activating. Common polymorphisms in CASR significantly influence serum calcium levels and are associated with various calcium-related disorders. Additionally, CASR gene variations can impact blood pressure and are involved in the body's inflammatory response, further highlighting the receptor's importance in overall calcium and mineral metabolism.
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