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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.
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Protein Aliases: beta-1,6-N-acetylglucosaminyltransferase; beta-1,6-N-acetylglucosaminyltransferase 2; glucosaminyltransferase, I-branching enzyme; I beta-1,6-N-acetylglucosaminyltransferase; I-branching enzyme; IGNT; Ii blood group; Large I antigen-forming beta-1,6-N-acetylglucosaminyltransferase; N-acetylglucosaminyltransferase; N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase
Gene Aliases: 5330430K10Rik; bA360O19.2; bA421M1.1; CCAT; CTRCT13; GCNT2; GCNT2C; GCNT5; IGNT; IGnTA; IGnTB; IGnTC; II; NACGT1; NAGCT1; ULG3
UniProt ID: (Human) Q8N0V5, (Mouse) P97402
Entrez Gene ID: (Human) 2651, (Mouse) 14538
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