Carbonic anhydrase II
Carbonic anhydrase II (gene name CA2), is one of fourteen forms of human α carbonic anhydrases. Carbonic anhydrase catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis[1]
References
Further reading
- Sly WS, Hu PY (1995). "Human carbonic anhydrases and carbonic anhydrase deficiencies". Annu. Rev. Biochem. 64: 375–401. doi:10.1146/annurev.bi.64.070195.002111. PMID 7574487.
- Kumpulainen T (1979). "Immunohistochemical localization of human carbonic anhydrase isoenzyme C.". Histochemistry. 62 (3): 271–80. PMID 114507.
- Henderson LE, Henriksson D, Nyman PO (1976). "Primary structure of human carbonic anhydrase C.". J. Biol. Chem. 251 (18): 5457–63. PMID 823150.
- Hu PY, Roth DE, Skaggs LA; et al. (1993). "A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries". Hum. Mutat. 1 (4): 288–92. doi:10.1002/humu.1380010404. PMID 1301935.
- Roth DE, Venta PJ, Tashian RE, Sly WS (1992). "Molecular basis of human carbonic anhydrase II deficiency". Proc. Natl. Acad. Sci. U.S.A. 89 (5): 1804–8. PMID 1542674.
- Dawson SJ, White LA (1992). "Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin". J. Infect. 24 (3): 317–20. PMID 1602151.
- Schwartz GJ, Brion LP, Corey HE, Dorfman HD (1991). "Case report 668. Carbonic anhydrase II deficiency syndrome (osteopetrosis associated with renal tubular acidosis and cerebral calcification)". Skeletal Radiol. 20 (6): 447–52. PMID 1925679.
- Venta PJ, Welty RJ, Johnson TM; et al. (1991). "Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene". Am. J. Hum. Genet. 49 (5): 1082–90. PMID 1928091.
- Venta PJ, Tashian RE (1990). "PCR detection of the TAQ1 polymorphism at the CA2 locus". Nucleic Acids Res. 18 (18): 5585. PMID 1977133.
- Sato S, Zhu XL, Sly WS (1990). "Carbonic anhydrase isozymes IV and II in urinary membranes from carbonic anhydrase II-deficient patients". Proc. Natl. Acad. Sci. U.S.A. 87 (16): 6073–6. PMID 2117271.
- Kaunisto K, Parkkila S, Tammela T; et al. (1990). "Immunohistochemical localization of carbonic anhydrase isoenzymes in the human male reproductive tract". Histochemistry. 94 (4): 381–6. PMID 2121671.
- Backman U, Danielsson B, Wistrand PJ (1991). "The excretion of carbonic anhydrase isozymes CA I and CA II in the urine of apparently healthy subjects and in patients with kidney disease". Scand. J. Clin. Lab. Invest. 50 (6): 627–33. PMID 2123360.
- Forsman C, Behravan G, Osterman A, Jonsson BH (1989). "Production of active human carbonic anhydrase II in E. coli". Acta Chem. Scand., B, Org. Chem. Biochem. 42 (5): 314–8. PMID 2850697.
- Venta PJ, Montgomery JC, Hewett-Emmett D, Tashian RE (1986). "Comparison of the 5' regions of human and mouse carbonic anhydrase II genes and identification of possible regulatory elements". Biochim. Biophys. Acta. 826 (4): 195–201. PMID 3000449.
- Ohlsson A, Cumming WA, Paul A, Sly WS (1986). "Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification". Pediatrics. 77 (3): 371–81. PMID 3081869.
- Nakai H, Byers MG, Venta PJ; et al. (1987). "The gene for human carbonic anhydrase II (CA2) is located at chromosome 8q22". Cytogenet. Cell Genet. 44 (4): 234–5. PMID 3107918.
- Montgomery JC, Venta PJ, Tashian RE, Hewett-Emmett D (1987). "Nucleotide sequence of human liver carbonic anhydrase II cDNA". Nucleic Acids Res. 15 (11): 4687. PMID 3108857.
- Murakami H, Marelich GP, Grubb JH; et al. (1988). "Cloning, expression, and sequence homologies of cDNA for human carbonic anhydrase II". Genomics. 1 (2): 159–66. PMID 3121496.
- Eriksson AE, Jones TA, Liljas A (1989). "Refined structure of human carbonic anhydrase II at 2.0 A resolution". Proteins. 4 (4): 274–82. doi:10.1002/prot.340040406. PMID 3151019.
- Eriksson AE, Kylsten PM, Jones TA, Liljas A (1989). "Crystallographic studies of inhibitor binding sites in human carbonic anhydrase II: a pentacoordinated binding of the SCN- ion to the zinc at high pH". Proteins. 4 (4): 283–93. doi:10.1002/prot.340040407. PMID 3151020.
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