By John B. Graham, Emily S. Barrow, Howard M. Reisner (auth.), Harry Harris, Kurt Hirschhorn (eds.)
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Extra resources for Advances in Human Genetics
4. VIl!. The double bonds between the RAg subunits are meant to imply disulfide linkages. The tetrad connecting CAg to the RAg polymers is meant to imply a noncovalent linkage. FACTOR VIII, CLASSICAL HEMOPHILIA, AND VON WILLEBRAND'S DISEASE Factor VIII is a complex plasma glycoprotein of very large size. It is composed of disulfide-linked subunits of Mr 200,000, which aggregate to form polymers of up to Mr 12 X 106 and a noncovalently bound component of Mr ~285,000, which is dissociable by proteolysis and/or high ionic strength (see Fig.
The gla and connecting regions serve to localize the catalytic region to a phospholipid surface, which results in a 10,000100,000-fold enhancement of the enzymic activity (Jackson and Nemerson, 1980; Jackson, 1981). Thrombin, the active enzyme derived from prothrombin, is not disulfide-linked to the gla plus connecting region of its zymogen ("pro" piece) and is released from the phospholipid surface into the circulation, where it initiates fibrin formation and is available to participate in a variety of positive feedback loops.
In prothrombin San Juan I, clotting activity is not detectable in clotting assays that are phospholipiddependent, and there probably is a defect in the gla region of the molecule, which seems to bind Ca2 + abnormally. At least some of the amino acid residues, however, appear to be ')I-carboxylated. Prothrombin San Juan II is physically separable from San Juan I and has about 14% of normal activity in phospholipid-dependent assays. VII (Fs. , 1977; S. S. , 1981; Roberts and Zeitler, 1982). Several prothrombins from individuals heterozygous for a mutant gene have also been partially characterized (prothrombins Cardeza, Padua, and Brussels).