PMID: 6988697Feb 8, 1980Paper

Analysis of normal and mutant forms of human adenosine deaminase - a review

Molecular and Cellular Biochemistry
P E Daddona, W N Kelley

Abstract

A deficiency of the enzyme adenosine deaminase is associated with an autosomal recessive form of severe combined immunodeficiency disease in man. The molecular forms of the normal human enzyme have now been well characterized in an effort to better understand the nature of the enzyme defect in affected patients. In some human tissues adenosine deaminase exists predominantly as a small molecular form while in other tissues a large form composed of adenosine deaminase (small form) and an adenosine deaminase-binding protein predominates. The small form of the enzyme purified to homogeneity by antibody affinity chromatography is a monomer of native molecular weight of 37,600. The adenosine deaminase-binding protein, purified by adenosine deaminase affinity chromatography, appears to be a dimer of native molecular weight 213,000 and contains carbohydrate. Based on direct binding measurements, chemical cross-linking studies and sedimentation equilibrium analyses, small form adenosine deaminase has been shown to combine with purified binding protein in a molar ratio of 2:1 respectively to produce the large form adenosine deaminase. Reduced, but widely ranging levels of adenosine deaminating activity, have been reported in various tiss...Continue Reading

Citations

Jan 1, 1984·Comparative Biochemistry and Physiology. B, Comparative Biochemistry·A FernándezA Sillero
Nov 1, 1983·Gene·D ValerioA J Van Der Eb
Aug 1, 1983·The Journal of Clinical Investigation·P E DaddonaC A Koller
Feb 20, 2016·Journal of Molecular and Cellular Cardiology·Tatiana NovitskayaRichard J Gumina
Jun 17, 2010·The Behavioral and Brain Sciences·Joseph HenrichAra Norenzayan
Apr 15, 1986·International Journal of Cancer. Journal International Du Cancer·J ten KateF T Bosman
Mar 1, 1994·European Journal of Immunology·I De MeesterS Scharpé
Oct 26, 2018·Circulation Research·Kiyotake IshikawaRoger J Hajjar

Related Concepts

Adenosine Deaminase
Erythrocytes
Immunologic Deficiency Syndromes
Alloenzymes
Nucleoside Deaminases
Variation (Genetics)
Macromolecular Compounds

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