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The AMP Deaminase Multigene Family in Rats and Humans

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Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism

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Abstract

Adenosine monophosphate (AMP) deaminase is a purine nucleotide interconverting enzymatic activity critical to energy metabolism, e.g., its role in the proposed functions of the purine nucleotide cycle (Lowenstein 1972). In higher eukaryotes, multiple isoforms exhibiting tissue-specific and developmental patterns of expression have been described. In addition to exhibiting diverse biochemical and immunological properties, limited cellular biology studies suggest that intraspecies variants of AMP deaminase occupy different intracellular addresses. Recent molecular studies have demonstrated AMP deaminase isoforms to be manifest through the expression of a multigene family, some members of which produce primary transcripts subject to alternative splicing. Clinically, inherited and acquired deficiencies of skeletal muscle AMP deaminase (Sabina et al. 1989b) and an inherited deficiency in erythrocytes (Ogasawara et al. 1984b) have been described. Our laboratory is utilizing cellular and molecular approaches to gain insight into the functional significance of AMP deaminase isoform diversity.

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Authors
  1. D. K. Mahnke-Zizelman
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  2. M. T. Bausch-Jurken
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  3. R. L. Sabina
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Editor information

Editors and Affiliations

  1. Medizinische Poliklinik, Universität München, Pettenkoferstr. 8 a, 80336, München, Germany

    Ursula Gresser

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© 1993 Springer Verlag, Berlin Heidelberg

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Mahnke-Zizelman, D.K., Bausch-Jurken, M.T., Sabina, R.L. (1993). The AMP Deaminase Multigene Family in Rats and Humans. In: Gresser, U. (eds) Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-84962-6_17

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  • DOI: https://doi.org/10.1007/978-3-642-84962-6_17

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-84964-0

  • Online ISBN: 978-3-642-84962-6

  • eBook Packages: Springer Book Archive

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