B3GALNT2

B3GALNT2

B3GALNT2

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. [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]

References

  1. [1]
    "Entrez Gene: Beta-1,3-N-acetylgalactosaminyltransferase 2". Retrieved 2013-08-28.
  2. [2]
    "UniProt". www.uniprot.org. Retrieved 2023-10-31.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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