GCNT2( Human )
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].