| 基因别名: | CCAT,GCNT2C,GCNT5,IGNT,II,MGC163396,NACGT1,NAGCT1,ULG3,bA360O19.2,bA421M1.1 |
| 基因名: | GCNT2 |
| 基因库序列号: | NM_145655.3 |
| 基因描述: | glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) |
| 基因概览: | 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 |
| 蛋白序列号: | NP_663630.2 |
| 别名: | I beta-1,6-N-acetylglucosaminyltransferase,I-branching beta-1,6-acetylglucosaminyltransferase,Ii blood group,N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase,OTTHUMP00000016015,OTTHUMP00000016018,OTTHUMP00000016021,beta-1,6-N-acetylglucosami |