Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia

This study shows that mutations effecting Gα11 loss of function cause familial hypocalciuric hypercalcemia type 2, and mutations effecting Gα11 gain of function result in autosomal dominant hypocalcemia type 2. Important aspects of Gα11 function are also described. Familial hypocalciuric hypercalcemia, an autosomal dominant disorder, is characterized by lifelong elevations of serum calcium concentrations with low urinary calcium excretion (mean urinary calcium:creatinine clearance ratio,