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PLOS ONE  2012 

Crystal Structure of the N-Acetylmannosamine Kinase Domain of GNE

DOI: 10.1371/journal.pone.0007165

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Abstract:

UDP-GlcNAc 2-epimerase/ManNAc 6-kinase, GNE, is a bi-functional enzyme that plays a key role in sialic acid biosynthesis. Mutations of the GNE protein cause sialurea or autosomal recessive inclusion body myopathy/Nonaka myopathy. GNE is the only human protein that contains a kinase domain belonging to the ROK (repressor, ORF, kinase) family.

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