Biology:B3GALNT2

Short description: Protein-coding gene in the species Homo sapiens

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.

Further reading

• Hiruma, T.; Togayachi, A.; Okamura, K.; Sato, T.; Kikuchi, N.; Kwon, Y. D.; Nakamura, A.; Fujimura, K. et al. (2004). "A Novel Human 1,3-N-Acetylgalactosaminyltransferase That Synthesizes a Unique Carbohydrate Structure, GalNAc 1-3GlcNAc". 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.