靶标:
GCNT2
产品别名:
CCAT; CTRCT13; GCNT2C; GCNT5; IGNT; II; NACGT1; NAGCT1; ULG3; bA360O19.2; bA421M1.1; GCNT2; glucosaminyl (N-acetyl) transferase 2 (I blood group); glucosaminyl (N-acetyl) transferase 2 (I blood group); N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase; I beta-1,6-N-acetylglucosaminyltransferase; Ii blood group; beta-1,6-N-acetylglucosaminyltransferase 2; glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group); β1-6 N-乙酰氨基葡萄糖转移酶2; β1-6 N-乙酰氨基葡萄糖转移酶6;
背景信息:
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.