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GNE is the gene symbol for UDP-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase; EC 5.1.3.14)/N-acetylmannosamine kinase (ManNAc kinase; EC 2.7.1.60). the rate limiting enzyme for sialic acid (Sia or Neu5Ac) biosynthesis.
Mutations on GNE has been associated with recessive form of HIBM (IBM2/DMRV) and Sialuria, allelic disorders with different clinical phenotypes. IBM2/DMRV is an adult onset muscle wating disorder, inherited by autosomal recessive mendelian pattern, and Sialuria is an autosomal dominant disease characterized by overproduction of cytosolic sialic acid. Mutations associated with IBM2/DMRV are beleived to cause reduction of enzymatic activity of GNE, leading to reduced Neu5Ac biosynthesis. Mutations associated with Sialuria are beleived to cause inactivation of the negative inhibitory allosteric domain of GNE, leading to overproduction of Neu5Ac.
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