2.4.1.313: protein O-mannose beta-1,3-N-acetylgalactosaminyltransferase
This is an abbreviated version!
For detailed information about protein O-mannose beta-1,3-N-acetylgalactosaminyltransferase, go to the full flat file.
Reaction
Synonyms
B3GALNT2, B3GalTN2, beta 1,3-N-acetylgalactosaminyltransferase2, beta-1,3-N-acetylgalactosaminyltransferase 2, beta1,3-N-acetylgalactosaminyltransferase II, beta1,3-N-acetylgalactosaminyltransferase-II, beta3GalNAc-T2, UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2
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Application
Application on EC 2.4.1.313 - protein O-mannose beta-1,3-N-acetylgalactosaminyltransferase
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analysis
detection and/or imaging of O-GlcNAc as well as potential sites for O-GlcNAc modification on biological samples. Occupied modification sites are detected using in vitro incorporation of azido-GalNAc by B3GALNT2, and unoccupied sites are detected by in vitro incorporation of azido-GlcNAc by O-GlcNAc transferase (OGT), via click chemistry
medicine
a 5-year-old patient heterozygous for a one-base duplication and a missense mutation in the gene B3GALNT2 patient shows psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels. The skeletal muscle displays reduced glycosylated alpha-dystroglycan. The brain at 3.5 years of age shows increased T2 signal from supratentorial and infratentorial white matter, a hypoplastic pons and subcortical cerebellar cysts. The patient shows a milder phenotype than previously described patients with mutations in the B3GALNT2 gene
medicine
mutations in GTDC2, beta-1,3-N-acetylgalactosaminyltransferase 2B3GALNT2, and kinase SGK196 disrupt dystroglycan receptor function and lead to congenital muscular dystrophy