B3GALNT2 explained

Beta-1,3-N-acetylgalactosaminyltransferase 2 is a protein that in humans is encoded by the B3GALNT2 gene.^[1]

Function

This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013].

Clinical significance

A mutation in B3GALNT2 is known to cause dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11), which is an autosomal recessive muscular dystrophy.^[2]

Further reading

• Hiruma . T. . Togayachi . A. . Okamura . K. . Sato . T. . Kikuchi . N. . Kwon . Y. D. . Nakamura . A. . Fujimura . K. . Gotoh . M. . Tachibana . K. . Ishizuka . Y. . Noce . T. . Nakanishi . H. . Narimatsu . H. . 10.1074/jbc.M310614200 . A Novel Human 1,3-N-Acetylgalactosaminyltransferase That Synthesizes a Unique Carbohydrate Structure, GalNAc 1-3GlcNAc . Journal of Biological Chemistry . 279 . 14 . 14087–14095 . 2004 . 14724282 . free .

Notes and References

1. Web site: Entrez Gene: Beta-1,3-N-acetylgalactosaminyltransferase 2. 2013-08-28 .
2. Web site: UniProt . 2023-10-31 . www.uniprot.org.