CA2 Antibody / Carbonic Anhydrase II

CA2 is a cytosolic enzyme with the highest activity among all known CAs. The carbonic anhydrases (ACs) form a family of enzymes that catalyze the rapid interconversion of carbon dioxide and water to bicarbonate and protons (or vice versa), a reversible reaction that occurs relatively slowly in the absence of a catalyst. 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. This gene is mapped to 8q22.