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Gene Review

POMT2  -  protein-O-mannosyltransferase 2

Homo sapiens

Synonyms: Dolichyl-phosphate-mannose--protein mannosyltransferase 2, LGMD2N, MDDGA2, MDDGB2, MDDGC2, ...
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Disease relevance of POMT2


High impact information on POMT2


Biological context of POMT2

  • Mutations in POMT2 have so far only been reported in patients with Walker-Warburg phenotype [1].

Anatomical context of POMT2


Other interactions of POMT2

  • Coexpression of POMT1 and POMT2 is required to show O-mannosylation activity [5].

Analytical, diagnostic and therapeutic context of POMT2


  1. POMT2 mutation in a patient with 'MEB-like' phenotype. Mercuri, E., D'Amico, A., Tessa, A., Berardinelli, A., Pane, M., Messina, S., van Reeuwijk, J., Bertini, E., Muntoni, F., Santorelli, F.M. Neuromuscul. Disord. (2006) [Pubmed]
  2. Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity. Manya, H., Chiba, A., Yoshida, A., Wang, X., Chiba, Y., Jigami, Y., Margolis, R.U., Endo, T. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  3. Molecular cloning and characterization of rat Pomt1 and Pomt2. Manya, H., Chiba, A., Margolis, R.U., Endo, T. Glycobiology (2006) [Pubmed]
  4. Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids. Willer, T., Amselgruber, W., Deutzmann, R., Strahl, S. Glycobiology (2002) [Pubmed]
  5. Physical and functional association of human protein O-mannosyltransferases 1 and 2. Akasaka-Manya, K., Manya, H., Nakajima, A., Kawakita, M., Endo, T. J. Biol. Chem. (2006) [Pubmed]
  6. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. van Reeuwijk, J., Janssen, M., van den Elzen, C., Beltran-Valero de Bernabé, D., Sabatelli, P., Merlini, L., Boon, M., Scheffer, H., Brockington, M., Muntoni, F., Huynen, M.A., Verrips, A., Walsh, C.A., Barth, P.G., Brunner, H.G., van Bokhoven, H. J. Med. Genet. (2005) [Pubmed]
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