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B3GNT1

N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase is an enzyme that, in humans, is encoded by the B3GNT1 gene.[5][6]

β-1,4-glucuronyltransferase

The B3GNT1 gene encodes a β-1,4-glucuronyltransferase, designated B4GAT1, that transfers glucuronic acid towards both α- and β-anomers of xylose.[7] B4GAT1 is the priming enzyme for LARGE, a dual-activity glycosyltransferase that is capable of extending products of B4GAT1. Thus, B4GAT1 is involved in the initiation of the LARGE-dependent repeating disaccharide that is necessary for extracellular matrix protein binding to O-mannosylated α-dystroglycan that is lacking in secondary dystroglycanopathies.

Misidentification

The B3GNT1 gene was first reported to encode a member of the beta-1,3-N-acetylglucosaminyltransferase family and thought to be responsible for the synthesis of poly-N-acetyllactosamine,[5] a determinant for the blood group i antigen. Thus, it was also known as iGNT.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000174684 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000047379 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b Sasaki K, Kurata-Miura K, Ujita M, Angata K, Nakagawa S, Sekine S, Nishi T, Fukuda M (December 1997). "Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis". Proceedings of the National Academy of Sciences of the United States of America. 94 (26): 14294–9. Bibcode:1997PNAS...9414294S. doi:10.1073/pnas.94.26.14294. PMC 24948. PMID 9405606.
  6. ^ "Entrez Gene: B3GNT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1".
  7. ^ Praissman JL, Live DH, Wang S, Ramiah A, Chinoy ZS, Boons GJ, Moremen KW, Wells L (October 2014). "B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan". eLife. 3. doi:10.7554/eLife.03943. PMC 4227051. PMID 25279697.

Further reading

External links