Carbonic anhydrase II

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 [cite web | title = Entrez Gene: CA2 carbonic anhydrase II| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=760| accessdate = ]

References

Further reading

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

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