Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase is an enzyme that in humans is encoded by the GNE gene. [5] [6] [7]

The GNE gene provides instructions for making an enzyme that is found in cells and tissues throughout the body. This enzyme plays a key role in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to the ends of …

Mar 30, 2025 · GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase) is a Protein Coding gene. Diseases associated with GNE include Nonaka Myopathy and Sialuria. Among its related pathways are Diseases of glycosylation and …

May 14, 2020 · GNE myopathy is caused by mutations in the GNE gene. This gene is responsible for the production of an enzyme needed to make SA. Patients consistently express lower levels of SA as clearly demonstrated by analyses performed on muscle biopsies.

GNE Myopathy is a rare (autosomal recessive) genetic disorder that causes progressive skeletal muscle atrophy and weakness. Previous names include hereditary inclusion body myopathy (HIBM), inclusion body myopathy type 2 (IBM2) or Nonaka myopathy.

GNE myopathy (OMIM 605820) is a rare genetic muscle disease characterized by progressive skeletal muscle atrophy due to mutations in GNE, the gene encoding the bifunctional enzyme UDP-N-acetylglucosamine (GlcNAc) 2-epimerase/N-acetylmannosamine (ManNAc) kinase (EC:3.2.1.183, EC:2.7.1.60) (Fig. 1).

The GNE gene encodes the rate-limiting, bifunctional enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). Biallelic GNE mutations underlie GNE myopathy, an adult-onset progressive myopathy.

Dec 10, 2024 · Title: Sialuria-Related Intellectual Disability in Children and Adolescent of Pakistan: Tenth Patient Described has a Novel Mutation in the GNE Gene. Congenital thrombocytopenia associated with GNE mutations in twin sisters: a …

HGNC Approved Gene Symbol: GNE. The GNE gene encodes UDP-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase; EC 5.1.3.14)/N-acetylmannosamine kinase (ManNAc kinase; EC 2.7.1.60), a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids (Hinderlich et al., 1997).

The GNE gene provides instructions for making an enzyme that is found in cells and tissues throughout the body. This enzyme plays a key role in a chemical pathway that