GNE (gene) - Wikipedia
Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase is an enzyme that in humans is encoded by the GNE gene. [5][6][7]
GNE Gene - GeneCards | GLCNE Protein | GLCNE Antibody
2024年12月25日 · GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase) is a Protein Coding gene. Diseases associated with GNE include Nonaka Myopathy …
GNE gene: MedlinePlus Genetics
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 …
Home - Gene - NCBI - National Center for Biotechnology Information
Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to …
GNE Myopathy - National Human Genome Research Institute
GNE Myopathy is a rare (autosomal recessive) genetic disorder that causes progressive skeletal muscle atrophy and weakness. Previous names include hereditary inclusion body myopathy …
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N …
2024年12月10日 · Title: A novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases. Altered autophagic flux in GNE mutant cells of Indian origin: …
UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE; 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 …
Mutation update for GNE gene variants associated with GNE …
The GNE gene encodes the rate-limiting, bifunctional enzyme of sialic acid biosynthesis, uridine diphosphate-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). Biallelic …
Disease mechanisms associated with mutations of the GNE gene
2005年12月1日 · The GNE gene encodes the rate-limiting, bifunctional enzyme of sialic acid biosynthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase. GNE mutations underlie two distinct …
Novel GNE Gene Variants Associated with Severe Congenital ...
The GNE gene encodes an enzyme that initiates and regulates the biosynthesis of N -acetylneuraminic acid, a precursor of sialic acids. GNE mutations are classically associated …