• important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with
  • hypoparathyroidism). This hormone is involved in the regulation of calcium levels in the blood. Abnormal levels of
  • defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia
  • cells. Mutations in this gene are associated with hypoparathyroidism. [provided by RefSeq, Jul 2008]
  • as Gracile Bone Dysplasia), both characterized by short stature, hypoparathyroidism, bone development
  • hypoparathyroidism, and adrenal gland insufficiency. Affected individuals typically have at least two of these
  • blood can be abnormally low, which is known as hypoparathyroidism. For this reason, autosomal dominant
  • also have a shortage of parathyroid hormone (hypoparathyroidism). Most CASR gene mutations involved in