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This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1, 6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described.
5330430K10Rik; bA360O19.2; bA421M1.1; beta-1,6-N-acetylglucosaminyltransferase; beta-1,6-N-acetylglucosaminyltransferase 2; CCAT; CTRCT13; Gcnt2; GCNT2C; GCNT5; glucosaminyl (N-acetyl) transferase 2, I-branching enzyme; glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group); glucosaminyltransferase, I-branching enzyme; I beta-1,6-N-acetylglucosaminyltransferase; I-branching beta-1,6-acetylglucosaminyltransferase; I-branching enzyme; IGNT; IGnTA; IGnTB; IGnTC; II; Ii blood group; large I antigen-forming beta-1,6-N-acetylglucosaminyltransferase; N-acetylglucosaminyltransferase; N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase; NACGT1; NAGCT1; ULG3
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