glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
Alias
CCAT | CTRCT13 | GCNT2C | GCNT5 | IGNT | NACGT1 | NAGCT1 | ULG3 | bA360O19.2 | bA421M1.1
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. [provided by RefSeq, Jul 2008].