基因名:
CA2
产品别名:
CA-II; CAC; CAII; Car2; HEL-76; HEL-S-282; CA2; carbonic anhydrase 2; carbonic anhydrase 2; carbonic anhydrase 2; carbonate dehydratase II; carbonic anhydrase B; carbonic anhydrase C; carbonic anhydrase II; carbonic dehydratase; cyanamide hydratase CA2; epididymis luminal protein 76; epididymis secretory protein Li 282; 碳酸酐酶2; 碳酸酐酶Ⅱ(CA2); 碳酸酐酶Ⅱ(CA2)天然蛋白;
背景信息:
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.