Aliases for GCNT2 Gene
- Glucosaminyl (N-Acetyl) Transferase 2 (I Blood Group) 2 3
- Glucosaminyl (N-Acetyl) Transferase 2, I-Branching Enzyme (I Blood Group) 2 3 5
- Ii Blood Group 2 3
- NACGT1 3 4
- GCNT5 3 4
- IGNT 3 4
- II 3 4
- N-Acetyllactosaminide Beta-1,6-N-Acetylglucosaminyl-Transferase 3
- I Beta-1,6-N-Acetylglucosaminyltransferase 3
- Beta-1,6-N-Acetylglucosaminyltransferase 2 3
- Glucosaminyl (N-Acetyl) Transferase 5 2
- N-Acetylglucosaminyltransferase 4
External Ids for GCNT2 Gene
Previous HGNC Symbols for GCNT2 Gene
Previous GeneCards Identifiers for GCNT2 Gene
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]
GeneCards Summary for GCNT2 Gene
GCNT2 (Glucosaminyl (N-Acetyl) Transferase 2 (I Blood Group)) is a Protein Coding gene. Diseases associated with GCNT2 include Cataract 13 With Adult I Phenotype and Blood Group, I System. Among its related pathways are terminal O-glycans residues modification and Metabolism. Gene Ontology (GO) annotations related to this gene include acetylglucosaminyltransferase activity and N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity. An important paralog of this gene is GCNT7.
UniProtKB/Swiss-Prot for GCNT2 Gene
Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells.
Isoform C: Determines the expression of the blood group I antigen in erythrocytes.