Selective deficiency of 3-beta-d-galactosyltransferase (T-transferase) in Tn-polyagglutinable erythrocytes.
A single genetic defect in membrane synthesis--namely, a deficiency of 3-beta-D-galactosyltransferase--can account for the serological and physicochemical properties of Tn-polyagglutinable erythrocytes.
D001666:Binding Sites, Antibody; D000939:Epitopes; D004903:Erythrocyte Aggregation; D004910:Erythrocyte Membrane / Q000201:enzymology*; D004912:Erythrocytes / Q000201:enzymology* / Q000276:immunology / Q000473:pathology*; D005700:Galactosyltransferases / Q000172:deficiency*; D006801:Humans; D008951:MNSs Blood-Group System; D008661:Metabolism, Inborn Errors / Q000097:blood*; D012795:Sialoglycoproteins / Q000378:metabolism
D000939:Epitopes; D008951:MNSs Blood-Group System; D012795:Sialoglycoproteins; D005700:Galactosyltransferases