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B3GALNT2 encodes a member of the glycosyltransferase 31 family. Additionally we are shipping beta-1,3-N-Acetylgalactosaminyl Transferase 2 Antibodies (20) and and many more products for this protein.
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A nonsense mutation XM_001491545 c.1423C>T corresponding to XP_001491595 p.Gln475* in B3GALNT2 (1:75,859,296-75,909,376) is concordant with hydrocephalus in Friesian horses
Mutations in B3GALNT2 give rise to a novel muscular dystrophy-dystroglycanopathies syndrome presentation, characterized by intellectual disability and seizure, but without any apparent muscular involvement.
B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.
B3GALNT2 overexpression is associated with breast cancer.
Results demonstrate a role for B3GALNT2 in the glycosylation of alpha-DG and show that B3GALNT2 mutations can cause dystroglycanopathy with muscle and brain involvement.
Although the GalNAcbeta1-3GlcNAcbeta1-R structure has not been reported in humans or other mammals, we have discovered a novel human glycosyltransferase (show GTDC2 Proteins) producing this structure on N- and O-glycans.
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.
UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2
, beta-1,3-N-acetylgalactosaminyltransferase 2
, UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2
, beta-1,3-N-acetylgalactosaminyltransferase II
, UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2-like
, UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2