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Science. 1987 Oct 9;238(4824):209-11.

Alpha 2-antiplasmin Enschede: alanine insertion and abolition of plasmin inhibitory activity.

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  • 1Center for Thrombosis and Vascular Research, University of Leuven, Belgium.

Abstract

An abnormal alpha 2-antiplasmin that is associated with a serious bleeding tendency has been found in a Dutch family and is referred to as alpha 2-antiplasmin Enschede. This abnormal alpha 2-antiplasmin is converted from an inhibitor of plasmin to a substrate. The molecular defect of alpha 2-antiplasmin Enschede, as revealed by sequencing of cloned genomic DNA fragments, consists of an alanine insertion near the active site region of the molecule. Substitution of this fragment into complementary DNA for a wild-type alpha 2-antiplasmin yields a translation product with physical and functional properties typical of the abnormal alpha 2-antiplasmin Enschede. The naturally occurring mutant may serve as a model for investigating the structures that determine the properties of an inhibitor versus those of a substrate in serine protease inhibitors.

PMID:
2958938
[PubMed - indexed for MEDLINE]
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