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The Value of Inherited Deficiencies of Human Carbonic Anhydrase Isozymes in Understanding Their Cellular Roles a
Author(s) -
TASHIAN RICHARD E.,
HEWETTEMMETT DAVID,
DODGSON SUSANNA J.,
FORSTER ROBERT E.,
SLY WILLIAM S.
Publication year - 1984
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.1984.tb12346.x
Subject(s) - isozyme , carbonic anhydrase , value (mathematics) , chemistry , biochemistry , enzyme , biology , computer science , machine learning
Very little light has been shed on the role of the low-activity CA I isozyme in humans by studies on CA I-deficient individuals. On the other hand, CA II-deficient individuals exhibit abnormalities of bone, kidney and brain, implicating a functional role for the high-activity CA II isozyme in cells from these tissues and organs. It also appears that the CA II-deficient red cell is capable of normal respiratory function under unstressed conditions. In addition, there is some preliminary evidence that those organs such as the eye which primarily contain the CA II isozyme, may be able to function effectively in the absence of CA II.