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Protein O-linked mannose beta1, 2-N-acetylglucosaminyltransferase 1 (POMGnT1) is an enzyme that catalyzes the transfer of N-acetylglucosamine to O-mannose of glycoproteins. Alpha-dystroglycan, a substrate of POMGnT1, is concentrated around the blood vessels, in the outer plexiform layer (OPL), and in the inner limiting membrane (ILM) of the retina. Mutations of the POMGnT1 gene in humans cause muscle-eye-brain...
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