GCNT2

Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group), also known as GCNT2, is a human gene.cite web | title = Entrez Gene: GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2651| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2651| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Fukuda M, Fukuda MN, Hakomori S |title=Developmental change and genetic defect in the carbohydrate structure of band 3 glycoprotein of human erythrocyte membrane. |journal=J. Biol. Chem. |volume=254 |issue= 10 |pages= 3700–3 |year= 1979 |pmid= 438154 |doi=
*cite journal | author=Keats B, Ott J, Conneally M |title=Report of the committee on linkage and gene order. |journal=Cytogenet. Cell Genet. |volume=51 |issue= 1-4 |pages= 459–502 |year= 1989 |pmid= 2791656 |doi=
*cite journal | author=Bierhuizen MF, Maemura K, Kudo S, Fukuda M |title=Genomic organization of core 2 and I branching beta-1,6-N-acetylglucosaminyltransferases. Implication for evolution of the beta-1,6-N-acetylglucosaminyltransferase gene family. |journal=Glycobiology |volume=5 |issue= 4 |pages= 417–25 |year= 1995 |pmid= 7579796 |doi=
*cite journal | author=Bierhuizen MF, Mattei MG, Fukuda M |title=Expression of the developmental I antigen by a cloned human cDNA encoding a member of a beta-1,6-N-acetylglucosaminyltransferase gene family. |journal=Genes Dev. |volume=7 |issue= 3 |pages= 468–78 |year= 1993 |pmid= 8449405 |doi=
*cite journal | author=Magnet AD, Fukuda M |title=Expression of the large I antigen forming beta-1,6-N-acetylglucosaminyltransferase in various tissues of adult mice. |journal=Glycobiology |volume=7 |issue= 2 |pages= 285–95 |year= 1997 |pmid= 9134435 |doi=
*cite journal | author=Sasaki K, Kurata-Miura K, Ujita M, "et al." |title=Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 26 |pages= 14294–9 |year= 1998 |pmid= 9405606 |doi=
*cite journal | author=Olavesen MG, Bentley E, Mason RV, "et al." |title=Fine mapping of 39 ESTs on human chromosome 6p23-p25. |journal=Genomics |volume=46 |issue= 2 |pages= 303–6 |year= 1998 |pmid= 9417921 |doi= 10.1006/geno.1997.5032
*cite journal | author=Yeh JC, Ong E, Fukuda M |title=Molecular cloning and expression of a novel beta-1, 6-N-acetylglucosaminyltransferase that forms core 2, core 4, and I branches. |journal=J. Biol. Chem. |volume=274 |issue= 5 |pages= 3215–21 |year= 1999 |pmid= 9915862 |doi=
*cite journal | author=Yu LC, Twu YC, Chang CY, Lin M |title=Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen. |journal=Blood |volume=98 |issue= 13 |pages= 3840–5 |year= 2002 |pmid= 11739194 |doi=
*cite journal | author=Potter KN, Hobby P, Klijn S, "et al." |title=Evidence for involvement of a hydrophobic patch in framework region 1 of human V4-34-encoded Igs in recognition of the red blood cell I antigen. |journal=J. Immunol. |volume=169 |issue= 7 |pages= 3777–82 |year= 2002 |pmid= 12244172 |doi=
*cite journal | author=Yu LC, Twu YC, Chou ML, "et al." |title=The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts. |journal=Blood |volume=101 |issue= 6 |pages= 2081–8 |year= 2003 |pmid= 12424189 |doi= 10.1182/blood-2002-09-2693
*cite journal | author=Inaba N, Hiruma T, Togayachi A, "et al." |title=A novel I-branching beta-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression. |journal=Blood |volume=101 |issue= 7 |pages= 2870–6 |year= 2003 |pmid= 12468428 |doi= 10.1182/blood-2002-09-2838
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Zhang T, Haws P, Wu Q |title=Multiple variable first exons: a mechanism for cell- and tissue-specific gene regulation. |journal=Genome Res. |volume=14 |issue= 1 |pages= 79–89 |year= 2004 |pmid= 14672974 |doi= 10.1101/gr.1225204
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Pras E, Raz J, Yahalom V, "et al." |title=A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts. |journal=Invest. Ophthalmol. Vis. Sci. |volume=45 |issue= 6 |pages= 1940–5 |year= 2004 |pmid= 15161861 |doi=
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504

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