Gene Symbol | GCNT2 |
Entrez Gene ID | 2651 |
Full Name | glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) |
Synonyms | CCAT,CTRCT13,GCNT2C,GCNT5,IGNT,II,NACGT1,NAGCT1,ULG3,bA360O19.2,bA421M1.1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | [Blood group, Ii], 110800 (3); Cataract 13 with adult i phenotype, 116700 (3); Adult i phenotype without cataract, 110800 (3) |