Article
GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jun 2023
Howles Sarah A, Gorvin Caroline M, Cranston Treena, Rogers Angela, Gluck Anna K, Boon Hannah, Gibson Kate, Rahman Mushtaqur, Root Allen, Nesbit M Andrew, Hannan Fadil M, Thakker Rajesh V
Abstract excerpt
Familial hypocalciuric hypercalcemia type 2 (FHH2) and autosomal dominant hypocalcemia type 2 (ADH2) are due to loss- and gain-of-function mutations, respectively, of the GNA11 gene that encodes the G protein subunit Gα11, a signaling partner of the calcium-sensing receptor (CaSR). To date, four probands with FHH2-associated Gα11 mutations and eight probands with ADH2-associated Gα11 mutations have been reported....
Topics
- GTP-Binding Protein alpha Subunits
- Mutation
- Receptors, Calcium-Sensing
- Hypercalcemia
- Humans
- Hypocalcemia
- Hypoparathyroidism
- HEK293 Cells
- Hypercalciuria