CASR wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CASR wild-type allele is located within 3q13.33-q21.1 and is approximately 108 kb in length. This allele, which encodes extracellular calcium-sensing receptor protein, plays a role in G-protein-coupled receptor signaling in response to changes in circulating calcium concentration. Mutations in the gene are associated with idiopathic generalized epilepsy 8, severe neonatal hyperparathyroidism, familial hypocalciuric hypercalcemia type 1 and autosomal dominant hypocalcemia 1, with or without Bartter Syndrome.

**Synonyms:** - CAR - Calcium Sensing Receptor wt Allele - EIG8 - FHH - FIH - GPRC2A - HHC - HHC1 - HYPOC1 - Hypocalciuric Hypercalcemia 1 Gene - NSHPT - PCAR1 - Parathyroid Ca(2+)-Sensing Receptor 1 Gene - Severe Neonatal Hyperparathyroidism Gene - hCasR