Inherited alpha 2 macroglobulin deficiency
Stenbjerg, S.
Thrombosis Research 22(4): 491-495
1981
ISSN/ISBN: 0049-3848 PMID: 6170131 Document Number: 175945
.alpha.2-Macroglobulin (a2M) complexes with and is an inhibitor of serine, thiol, carboxyl and metal proteases. It is present in plasma and serum, on the surface of B lymphocytes and is probably produced by cells of the monocyte-macrophage lineage. The complexes formed by a2M and enzymes are unique in the sense that the enzyme retains its activity towards small substrates; the complex formation may be of importance for the expression of enzyme activity. A total absence of a2M may not be compatible with life, and until now there was only a single report on inherited a2M deficiency. In 1 family low levels of a2M were associated with the Ehlers-Danlos syndrome. A 2nd family with inherited a2M deficiency is discussed.