Beta-1,3-N-acetylgalactosaminyltransferase 2 is a protein that in humans is encoded by the B3GALNT2 gene.
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.
References
Further reading Hiruma T, Togayachi A, Okamura K, Sato T, Kikuchi N, Kwon YD, et al. (Apr 2004). "A Novel Human 1,3-N-Acetylgalactosaminyltransferase That Synthesizes a Unique Carbohydrate Structure, GalNAc 1-3GlcNAc". The Journal of Biological Chemistry. 279 (14): 14087–14095. doi:10.1074/jbc.M310614200. PMID 14724282. This article incorporates text from the United States National Library of Medicine, which is in the public domain.