Protein O-Linked-Mannose Beta-1,2-N-Acetylglucosaminyltransferase 1 (POMGNT1)

Reference work entry


The O-mannosyl glycan is a type of O-glycan in which the reducing terminal mannose is attached to the hydroxyl group of serine (Ser) and threonine (Thr) residues. We demonstrated that the major glycans of α-dystroglycan (α-DG) include O-mannosyl glycan and determined the main structure of O-mannosyl glycan, Siaα2-3Galβ1-4GlcNAcβ1-2Man (Chiba et al. 1997). Protein O-linked mannose β1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) catalyzes the transfer of GlcNAc from UDP-GlcNAc to O-mannose of glycoproteins. The human POMGnT1 gene was cloned from a cDNA sequence homologous to human GnT-I (UDP-GlcNAc: α-3-d-mannoside β1,2-N-acetylglucosaminyltransferase I) (Yoshida et al. 2001). POMGnT1 is responsible for muscle-eye-brain disease (MEB), which is a congenital muscular dystrophy with brain malformation caused by abnormal O-mannosylation of α-DG, the so-called α-dystroglycanopathy (Yoshida et al. 2001) (Fig. 38.1).


Muscular Dystrophy Membrane Fraction Acceptor Substrate Brain Malformation Congenital Muscular Dystrophy 


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Copyright information

© Springer Japan 2014

Authors and Affiliations

  1. 1.Molecular GlycobiologyTokyo Metropolitan Geriatric Hospital and Institute of GerontologyItabashi-kuJapan

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