Entrez gene ID | | 2651 |
Official gene symbol | | GCNT2 |
Full name | | glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) |
Aliases | | ,CCAT,GCNT2C,GCNT5,IGNT,II,MGC163396,NACGT1,NAGCT1,ULG3,bA360O19.2,bA421M1.1, |
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] |
Location | | Chromosome: 6 Locus: 6p24.2 |
Gene position | | 10521568 - 10629601 Map Viewer |
Gene orientation | | plus |
Gene size | | 108034 bp |
Gene sequence |
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OMIM ID | | 600429 |
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