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  • Molecular assay reagents intended to identify mutations in the glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) gene, located at chromosome 9p13.3, which encodes for the bifunctional enzyme UDP-N-acetyl glucosamine 2 epimerase. The enzyme regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. Mutations at this locus have been identified in most adult patients with inclusion body myopathy type 2 (IBM2), Nonaka myopathy (NM), and early-infant-onset sialuria.
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