Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GNE

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GNE

Definition : 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.

Entry Terms : "Sialuria Gene Mutation Detection Reagents" , "Distal Myopathy with Rimmed Vacuoles (DMRV) Gene Mutation Detection Reagents" , "Hereditary Inclusion Body Myopathy Gene Mutation Detection Reagents" , "Vacuolar Myopathy Sparing the Quadriceps Gene Mutation Detection Reagents" , "Inclusion Body Myopathy 2 (IBM2) Gene Mutation Detection Reagents" , "GNE Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, GNE"

UMDC code : 24450

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