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Biochemical Genetics of Carbonic Anhydrase

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Advances in Human Genetics

Part of the book series: Advances in Human Genetics ((AHUG,volume 7))

Abstract

Carbonic anhydrase (EC 4.2.1.1. carbonate dehydratase) appears to be present in placental mammals as two distinct molecular forms, or isozymes, which are apparently under the control of two closely linked autosomal genes. Next to hemoglobin, carbonic anhydrase is the most abundant protein to be found in human erythrocytes. This feature, together with the easily definable electrophoretic phenotypes of the two isozymes, and the relative ease with which they can be purified from hemolysates, has made the carbonic anhydrase isozyme system a particularly attractive one for the study of genetic variation in humans at the molecular level.

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Authors and Affiliations

  1. Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA

    Richard E. Tashian

  2. Department of Biochemistry, London Hospital Medical College University of London, London, England

    Nicholas D. Carter

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  1. Richard E. Tashian
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Editors and Affiliations

  1. University College London, London, England

    Harry Harris (Galton Professor of Human Genetics) (Galton Professor of Human Genetics)

  2. Mount Sinai School of Medicine of The City University of New York, USA

    Kurt Hirschhorn (Arthur J. and Nellie Z. Cohen Professor of Genetics and Pediatrics) (Arthur J. and Nellie Z. Cohen Professor of Genetics and Pediatrics)

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Tashian, R.E., Carter, N.D. (1976). Biochemical Genetics of Carbonic Anhydrase. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics. Advances in Human Genetics, vol 7. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-0659-8_1

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