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GCNT2 is 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.
Gene Name: | glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) |
Synonyms: | GCNT2, BA421M1.1, BA360O19.2, CCAT, Cataract, congenital, GCNT2C, I-branching enzyme, Ii blood group, GCNT5, IGNT, NAGCT1, ULG3, NACGT1 |
Target Sequences: | NM_001491 NP_001482.1 Q06430 |
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