Protein Name | glucosaminyl (N-acetyl) transferase 2 (I blood group) |
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Organism | Homo sapiens |
Gene ID | 2651 |
Gene Symbol | GCNT2 |
UniProt | Q8N0V5 (GNT2A_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
13
Total Number of Articles : 11 |
Description |
glucosaminyl (N-acetyl) transferase 2 (I blood group) |
Gene Summary |
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] |
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