EC Number   |
Protein Variants |
Reference |
|---|
   2.4.1.228 | Q211E |
a mutation in the open reading frame, which broadens the enzyme specificity, making it able also to synthesize Gal(alpha1-4)GalNAc moiety, which constitutes the defining terminal disaccharide of the NOR antigen (carried by two glycosphingolipids: NOR1 and NOR2) |
735618 |
| 2.4.1.228 | Q211E |
naturally occuring mutation enabeling the mutant to synthesize unique globoside (Gb4Cer) NOR derivatives, overview |
722791 |
| 2.4.1.228 | Q211E |
the mutation broadens the enzyme acceptor specificity, so the enzyme can not only attach galactose to another galactose but also to N-acetylgalactosamine. The latter reaction leads to synthesis of NOR antigens, which are glycosphingolipids with terminal Gal(alpha1-4)GalNAc sequence. Cells transfected with vectors encoding Gb3/CD77 synthase with substitutions p. Q211D or p. Q211N do not express Pk, P1 and NOR antigens, suggesting complete loss of enzymatic activity. Thus, amino acid residue at position 211 of Gb3/CD77 synthase is critical for specificity and activity of the enzyme involved in formation of Pk, P1 and NOR antigens |
759315 |
