The value of inherited deficiencies of human carbonic anhydrase isozymes in understanding their cellular roles.
Very little light has been shed on the role of the low-activity CA I isozyme in humans by studies on CA I-deficient individuals. On the other hand, CA II-deficient individuals exhibit abnormalities of bone, kidney and brain, implicating a functional role for the high-activity CA II isozyme in cells from these tissues and organs. It also appears that the CA II-deficient red cell is capable of normal respiratory function under unstressed conditions. In addition, there is some preliminary evidence that those organs such as the eye which primarily contain the CA II isozyme, may be able to function effectively in the absence of CA II.
D000141:Acidosis, Renal Tubular / Q000201:enzymology; D001927:Brain Diseases / Q000201:enzymology; D002114:Calcinosis / Q000201:enzymology; D002256:Carbonic Anhydrases / Q000172:deficiency* / Q000378:metabolism; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000172:deficiency* / Q000378:metabolism; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014018:Tissue Distribution
D007527:Isoenzymes; D002256:Carbonic Anhydrases