title: A familial abnormality of circulating vitamin B12 binding proteins: occurrence in a family of high serum concentrations of transcobalamin II.
abstract: A family is described in which two members (a father and a daughter), both with quiescent ulcerative colitis, had abnormally high serum concentrations of a vitamin B12 binding protein. This protein had the molecular weight of transcobalamin II on gel filtration, and behaved like transcobalamin II with respect to its elution from DE-23 cellulose, its inhibition at acid pH, its absorption by uncoated charcoal, its binding by anti-TC II antibodies, and its ability to transfer vitamin B12 to transformed lymphocytes. Its plasma clearance and tissue distribution when injected into rabbits was indistinguishable from that of transcobalamin II from normal subjects. It migrated on electrophoresis in the beta, gamma region. This is the first case report of related subjects in whom high serum concentrations of transcobalamin II have been observed.
mesh_terms: D001798:Blood Proteins / Q000032:analysis*; D002352:Carrier Proteins / Q000097:blood / Q000276:immunology; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood* / Q000235:genetics; D008875:Middle Aged; D014155:Transcobalamins / Q000032:analysis*; D014805:Vitamin B 12 / Q000097:blood* / Q000276:immunology / Q000378:metabolism
chemical_list: D001798:Blood Proteins; D002352:Carrier Proteins; D014155:Transcobalamins; D014805:Vitamin B 12