Pub. Date : 2007 Jan 15
PMID : 17164266
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
1 | Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion myopathy (h-IBM) is an early adult-onset distal myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene which encodes for a bifunctional enzyme involved in sialic acid biosynthesis. | N-Acetylneuraminic Acid | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Mus musculus |