B3GNT1 explained

N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase is an enzyme that, in humans, is encoded by the B3GNT1 gene.[1] [2]

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.[3] 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, a determinant for the blood group i antigen. Thus, it was also known as iGNT.

Further reading

Notes and References

  1. Sasaki K, Kurata-Miura K, Ujita M, Angata K, Nakagawa S, Sekine S, Nishi T, Fukuda M . 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 . December 1997 . 9405606 . 24948 . 10.1073/pnas.94.26.14294 . 1997PNAS...9414294S . free .
  2. Web site: Entrez Gene: B3GNT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1.
  3. Praissman JL, Live DH, Wang S, Ramiah A, Chinoy ZS, Boons GJ, Moremen KW, Wells L . B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan . eLife . 3 . October 2014 . 25279697 . 4227051 . 10.7554/eLife.03943 . free .