Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1

Summary
External Links
UniProt
Q8WZA1
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Congenital muscular dystrophy
  • Disease variant
  • Disulfide bond
  • Dystroglycanopathy
  • Glycosyltransferase
  • Golgi apparatus
  • Lectin
  • Limb-girdle muscular dystrophy
  • Lissencephaly
  • Manganese
  • Metal-binding
  • Phosphoprotein
  • Reference proteome
  • Retinitis pigmentosa
  • Signal-anchor
  • Transmembrane helix
Gene Ontology (GO)
Pathway
Displaying all 2 entries
Pathway Name Organism
Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 Homo sapiens
O-linked glycosylation Homo sapiens

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024