A protein that inhibits certain proteolytic enzymes (proteases) is normally secreted into the bloodstream by liver cells.

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A protein that inhibits certain proteolytic enzymes (proteases) is normally secreted into the bloodstream by liver cells. This inhibitor protein, antitrypsin, is absent from the bloodstream of patients who carry a mutation that results in a single amino acid change in the protein. Antitrypsin deficiency causes a variety of severe problems, particularly in lung tissue, because of the uncontrolled activity of proteases. Surprisingly, when the mutant antitrypsin is synthesized in the laboratory, it is as active as the normal antitrypsin at inhibiting proteases. Why, then, does the mutation cause the disease? Think of more than one possibility and suggest ways in which you could distinguish between them.

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Essential Cell Biology

ISBN: 9780393680362

5th Edition

Authors: Bruce Alberts, Karen Hopkin, Alexander Johnson, David Morgan, Martin Raff, Keith Roberts, Peter Walter

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