Enzymatically inactive red cell carbonic anhydrase B in a family with renal tubular acidosis.
An inactive mutant form of red cell carbonic anhydrase B is described in three members of a large kindred who manifest infantile renal tubular acidosis and nerve deafness. A combination of enzymatic and immunologic investigations permitted its detection, despite the fact that both antigenic and electrophoretic properties of the mutant were identical to those of the normal form.
D000141:Acidosis, Renal Tubular / Q000201:enzymology* / Q000235:genetics; D002256:Carbonic Anhydrases / Q000097:blood*; D002648:Child; D004591:Electrophoresis, Polyacrylamide Gel; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006801:Humans; D006863:Hydrogen-Ion Concentration; D009154:Mutation; D010375:Pedigree; D014556:Urine
D002256:Carbonic Anhydrases