Gene:
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme
Gene ID:
203404
Symbol:
GCNT2
Species:
1000
Description:
The enzyme encoded by this gene is responsible for the formation of the blood group I antigen. The i and I antigens are determined by linear and branched poly-N-acetyllactosaminoglycans, respectively. During embryonic development in human erythrocytes, the fetal i antigen is replaced by the adult I antigen as the result of the appearance of a beta-1,6-N-acetylglucosaminyltransferase, the I-branching enzyme. This gene encodes the I-branching enzyme that converts the linear form into the branched form. Defects in this gene have been associated with adult i blood group phenotype. Several transcript variants encoding different isoforms have been described.