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protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase

The protein encoded by this gene is a type II transmembrane protein that resides in the golgi. It participates in O-mannosyl glycosylation, and is specific for alpha linked terminal mannose. Mutations in this gene are associated with muscle-eye-brain (MEB) disease. Alternatively spliced transcript variants have been found for this gene.

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Data Correlations | 1,117 studies

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Diseases category icon Diseases
Score Help
Muscle eye brain dis… 100 100
Muscle-eye-brain dis… 99 99
Irritable bowel synd… 49 49
Effects of heat 42 42
Generalized ischemic… 41 41
Corneal burn 40 40
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Geneticperturbations category icon Gene perturbations
Score Help
PTGS1 gene 100 100
FOSL2 gene 97 97
IPO8 gene 87 87
PTGER4 gene 86 86
FBP2 gene 83 83
PBX1 gene 81 81
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Compounds category icon Compounds
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Ursodeoxycholic Acid 100 100
Piperidolate 81 81
N-Methyl-3,4-methyle… 79 79
Niflumic Acid 75 75
Midecamycin 74 74
Torcetrapib 71 71
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Individual Studies

  • Mouse Phenotypes - Myopathy

    score: 100100 | Mus musculus Mus musculus | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated mouse gene mutation data extracted from the Mouse Genome Database (MGD) at The Jackson Laboratory, Bar Harbor, Maine. Additional computational processing and curation of mouse phenotype data was performed to further organize and group data from related phenotypes into uni…

    Source: NextBio Library/Mutation and Phenotypic data

  • OMIM - Congenital disorder

    score: 100100 | Homo sapiens Homo sapiens | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated human phenotype data extracted from OMIM. Additional computational processing and curation of the phenotype data was performed to further organize and group data from related phenotypes into unifying disease categories.

    Source: NextBio Library/Mutation and Phenotypic data
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Associated Researchers

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Thought leaders and organizations working on research involving POMGNT1.

View All Author iconAuthors
  • Tamao Endo
  • Tatsushi Toda
  • Haluk Topaloglu
  • Hiroshi Manya
  • Beril Talim
View All Affiliations icon Organizations
  • Osaka University Graduate School of Medicine
  • Tokyo Metropolitan Institute of Gerontology
  • University of Nottingham
  • SUNY Upstate Medical University
  • Tokyo Women's Medical University

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