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Gene Review

POMGNT1  -  protein O-linked mannose N...

Homo sapiens

Synonyms: FLJ20277, GNTI.2, GnT I.2, LGMD2O, MEB, ...
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Disease relevance of POMGNT1

  • These findings emphasize the importance of considering MEB and searching for POMGnT1 mutations in WWS or other congenital muscular dystrophy patients worldwide [1].
  • We also observed a slight correlation between the location of the mutation and clinical severity in the brain: patients with mutations near the 5' terminus of the POMGnT1 coding region show relatively severe brain symptoms such as hydrocephalus, while patients with mutations near the 3' terminus have milder phenotypes [1].

High impact information on POMGNT1


Biological context of POMGNT1


Associations of POMGNT1 with chemical compounds


Other interactions of POMGNT1

  • This protocol describes assay methods for the mammalian POMT and POMGnT [10].

Analytical, diagnostic and therapeutic context of POMGNT1


  1. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Taniguchi, K., Kobayashi, K., Saito, K., Yamanouchi, H., Ohnuma, A., Hayashi, Y.K., Manya, H., Jin, D.K., Lee, M., Parano, E., Falsaperla, R., Pavone, P., Van Coster, R., Talim, B., Steinbrecher, A., Straub, V., Nishino, I., Topaloglu, H., Voit, T., Endo, T., Toda, T. Hum. Mol. Genet. (2003) [Pubmed]
  2. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Beltrán-Valero de Bernabé, D., Currier, S., Steinbrecher, A., Celli, J., van Beusekom, E., van der Zwaag, B., Kayserili, H., Merlini, L., Chitayat, D., Dobyns, W.B., Cormand, B., Lehesjoki, A.E., Cruces, J., Voit, T., Walsh, C.A., van Bokhoven, H., Brunner, H.G. Am. J. Hum. Genet. (2002) [Pubmed]
  3. N-Acetylglucosaminyltransferase IX acts on the GlcNAc beta 1,2-Man alpha 1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan. Inamori, K., Endo, T., Gu, J., Matsuo, I., Ito, Y., Fujii, S., Iwasaki, H., Narimatsu, H., Miyoshi, E., Honke, K., Taniguchi, N. J. Biol. Chem. (2004) [Pubmed]
  4. POMGnT1 Mutations in Congenital Muscular Dystrophy: Genotype-Phenotype Correlation and Expanded Clinical Spectrum. Biancheri, R., Bertini, E., Falace, A., Pedemonte, M., Rossi, A., D'Amico, A., Scapolan, S., Bergamino, L., Petrini, S., Cassandrini, D., Broda, P., Manfredi, M., Zara, F., Santorelli, F.M., Minetti, C., Bruno, C. Arch. Neurol. (2006) [Pubmed]
  5. Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1. Akasaka-Manya, K., Manya, H., Kobayashi, K., Toda, T., Endo, T. Biochem. Biophys. Res. Commun. (2004) [Pubmed]
  6. Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan. Xiong, H., Kobayashi, K., Tachikawa, M., Manya, H., Takeda, S., Chiyonobu, T., Fujikake, N., Wang, F., Nishimoto, A., Morris, G.E., Nagai, Y., Kanagawa, M., Endo, T., Toda, T. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
  7. Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features. Haliloglu, G., Gross, C., Senbil, N., Talim, B., Hehr, U., Uyanik, G., Winkler, J., Topaloglu, H. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases. (2004) [Pubmed]
  8. Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. Manya, H., Sakai, K., Kobayashi, K., Taniguchi, K., Kawakita, M., Toda, T., Endo, T. Biochem. Biophys. Res. Commun. (2003) [Pubmed]
  9. Glycosylation in congenital muscular dystrophies. Endo, T., Toda, T. Biol. Pharm. Bull. (2003) [Pubmed]
  10. O-mannosylation in Mammalian cells. Endo, T., Manya, H. Methods Mol. Biol. (2006) [Pubmed]
  11. Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents. Zhang, W., Vajsar, J., Cao, P., Breningstall, G., Diesen, C., Dobyns, W., Herrmann, R., Lehesjoki, A.E., Steinbrecher, A., Talim, B., Toda, T., Topaloglu, H., Voit, T., Schachter, H. Clin. Biochem. (2003) [Pubmed]
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