GNE wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human GNE wild-type allele is located in the vicinity of 9p13.3 and is approximately 63 kb in length. This allele, which encodes bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase protein, plays a role in the rate limiting step of the synthesis of precursors used in the sialic acid modification of proteins and lipids. Mutation of the gene is associated with both Nonaka myopathy and sialuria.

**Synonyms:** - DMRV - GLCNE - Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase wt Allele - IBM2 - NM - Uae1