Pathology
Mutations that inactivate a CaSR gene cause Familial hypocalciuric hypercalcemia (FHH) (also known as Familial Benign Hypercalcemia because it is generally asymptomatic and does not require treatment), when present in heterozygotes. Patients who are homozygous for CaSR inactivating mutations have more severe hypercalcemia. Other mutations that activate CASR are the cause of autosomal dominant hypocalcemia or Type 5 Bartter syndrome. An alternatively spliced transcript variant encoding 1088 aa has been found for this gene, but its full-length nature has not been defined.
Read more about this topic: Calcium-sensing Receptor
Famous quotes containing the word pathology:
“It is often said that Poland is a country where there is anti-semitism and no Jews, which is pathology in its purest state.”
—Bronislaw Geremek (b. 1932)