B3GALNT2
Beta-1,3-N-acetylgalactosaminyltransferase 2 is a protein that in humans is encoded by the B3GALNT2 gene. [1]
Function
[edit]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
[edit]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]
References
[edit]- ^ "Entrez Gene: Beta-1,3-N-acetylgalactosaminyltransferase 2". Retrieved 2013-08-28.
- ^ "UniProt". www.uniprot.org. Retrieved 2023-10-31.
Further reading
[edit]- 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.
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