Description
The carbonic anhydrases (or carbonate dehydratases) are classified as metalloenzyme for its zinc ion prosthetic group and form a family of enzymes that catalyze the rapid interconversion of carbon dioxide and water to bicarbonate and protons, a reversible reaction that takes part in maintaining acid-base balance in blood and other tissues. CA2 is a cytosolic enzyme with the highest activity among all known CAs. Mutations in the CA2 gene result in the CA II deficiency syndrome, an autosomal recessive disorder that produces osteopetrosis, renal tubular acidosis and cerebral calcification.