B3GALNT2

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

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].

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]

• 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. (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.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

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