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Gene : GCNT2 Homo sapiens

Name  ? glucosaminyl (N-acetyl) transferase 2 (I blood group) Cytological Location  6p24.3-p24.2
Brief Description  glucosaminyl (N-acetyl) transferase 2 (I blood group)
Description  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]
  • synonyms:
  • ULG3,
  • glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group),
  • glucosaminyl (N-acetyl) transferase 5,
  • GCNT2,
  • HGNC:4204,
  • GCNT2C,
  • CCAT,
  • NACGT1,
  • NAGCT1,
  • bA421M1.1,
  • II,
  • Ii blood group,
  • II,
  • OTTHUMG00000014244,
  • CCAT,
  • NM_145649,
  • unassigned linkage group 3,
  • bA421M1.1,
  • CTRCT13,
  • NACGT1,
  • IGNT,
  • bA360O19.2,
  • cataract, congenital,
  • uc010jol.4,
  • NAGCT1,
  • GCNT5,
  • ULG3,
  • L41605,
  • bA360O19.2,
  • GCNT5,
  • IGNT
  • identifiers:
  • 2651,
  • ENSG00000111846,
  • GCNT2

Genome feature

Region: gene ? Length: 108086  
Location: 6:10521283-10629368 Cyto location: 6p24.3-p24.2

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2 Diseases

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998 SN Ps

5 Cross References

20 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results