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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 | 951 studies

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Tissues category icon Normal tissues
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Femur 100 100
Pericardium 96 96
Superior vena cava 93 93
Inferior ganglion of… 91 91
Subthalamic nucleus 88 88
Vestibular nuclear c… 87 87
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Compounds category icon Compounds
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Ursodeoxycholic Acid 100 100
Piperidolate 82 82
Niflumic Acid 76 76
Midecamycin 75 75
Tocainide 71 71
Gelatine 68 68
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Diseases category icon Diseases
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Muscle eye brain dis… 100 100
Muscle-eye-brain dis… 99 99
Irritable bowel synd… 46 46
Anomaly of chromosom… 42 42
Generalized ischemic… 41 41
Corneal burn 39 39
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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
  • Hiroshi Manya
  • Haluk Topaloglu
  • Thomas Voit
View All Affiliations icon Organizations
  • Osaka University Graduate School of Medicine
  • Tokyo Metropolitan Institute of Gerontology
  • University of Iowa
  • University of Nottingham
  • University Medical Centre Groningen

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