XB-GENEPAGE-959855
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pomgnt1
???displayGene.name???:
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
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(
Nomenclature history )
???displayGene.geneFunction???
N-acetylglucosaminyltransferase I
AI Protein Function
:
pomgnt1 encodes a Golgi‑resident glycosyltransferase that catalyzes the addition of N‑acetylglucosamine to O‑mannosyl glycans on α‑dystroglycan, thereby facilitating proper glycosylation of dystroglyca...[+]
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Diseases:
Disease Ontology:
Walker-Warburg syndrome
MIM:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES),
External Links:
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