GNE (gene)

Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Identifiers
Symbols	GNE ; NM; DMRV; GLCNE; IBM2; Uae1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 3996
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase, also known as GNE, is a human gene.

The bifunctional enzyme, UDP-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase/N-acetylmannosamine kinase) regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. UDP-GlcNAc 2-epimerase activity is rate-limiting for the biosynthesis of sialic acid and is required for sialylation in hematopoietic cells. The activity of the enzyme can be controlled at the transcriptional level and can affect the sialylation and function of specific cell surface molecules expressed on B cells and myeloid cells. Modification of cell surface molecules with sialic acid is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Sialuria is a rare inborn error of metabolism characterized by cytoplasmic accumulation and increased urinary excretion of free NeuAc.

Further reading

• Wilcken B, Don N, Greenaway R; et al. (1987). "Sialuria: a second case". J. Inherit. Metab. Dis. 10 (2): 97–102. PMID 2443758.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Weiss P, Tietze F, Gahl WA; et al. (1989). "Identification of the metabolic defect in sialuria". J. Biol. Chem. 264 (30): 17635–6. PMID 2808337.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Krasnewich DM, Tietze F, Krause W; et al. (1993). "Clinical and biochemical studies in an American child with sialuria". Biochem. Med. Metab. Biol. 49 (1): 90–6. PMID 8439453.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mitrani-Rosenbaum S, Argov Z, Blumenfeld A; et al. (1996). "Hereditary inclusion body myopathy maps to chromosome 9p1-q1". Hum. Mol. Genet. 5 (1): 159–163. PMID 8789455.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.CS1 maint: Multiple names: authors list (link)
• Hinderlich S, Stäsche R, Zeitler R, Reutter W (1997). "A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase". J. Biol. Chem. 272 (39): 24313–8. PMID 9305887.CS1 maint: Multiple names: authors list (link)
• Stäsche R, Hinderlich S, Weise C; et al. (1997). "A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Molecular cloning and functional expression of UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase". J. Biol. Chem. 272 (39): 24319–24. PMID 9305888.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Seppala R, Lehto VP, Gahl WA (1999). "Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme". Am. J. Hum. Genet. 64 (6): 1563–9. PMID 10330343.CS1 maint: Multiple names: authors list (link)
• Keppler OT, Hinderlich S, Langner J; et al. (1999). "UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation". Science. 284 (5418): 1372–6. PMID 10334995.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ferreira H, Seppala R, Pinto R; et al. (1999). "Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics". Mol. Genet. Metab. 67 (2): 131–7. doi:10.1006/mgme.1999.2852. PMID 10356312.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lucka L, Krause M, Danker K; et al. (1999). "Primary structure and expression analysis of human UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase, the bifunctional enzyme in neuraminic acid biosynthesis". FEBS Lett. 454 (3): 341–4. PMID 10431835.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Leroy JG, Seppala R, Huizing M; et al. (2001). "Dominant inheritance of sialuria, an inborn error of feedback inhibition". Am. J. Hum. Genet. 68 (6): 1419–27. PMID 11326336.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Eisenberg I, Avidan N, Potikha T; et al. (2001). "The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy". Nat. Genet. 29 (1): 83–7. doi:10.1038/ng718. PMID 11528398.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kovach MJ, Waggoner B, Leal SM; et al. (2002). "Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia". Mol. Genet. Metab. 74 (4): 458–75. doi:10.1006/mgme.2001.3256. PMID 11749051.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kayashima T, Matsuo H, Satoh A; et al. (2002). "Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)". J. Hum. Genet. 47 (2): 77–9. PMID 11916006.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Tomimitsu H, Ishikawa K, Shimizu J; et al. (2002). "Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene". Neurology. 59 (3): 451–4. PMID 12177386.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Arai A, Tanaka K, Ikeuchi T; et al. (2002). "A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees". Ann. Neurol. 52 (4): 516–9. doi:10.1002/ana.10341. PMID 12325084.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Darvish D, Vahedifar P, Huo Y (2003). "Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737)". Mol. Genet. Metab. 77 (3): 252–6. PMID 12409274.CS1 maint: Multiple names: authors list (link)
• Nishino I, Noguchi S, Murayama K; et al. (2003). "Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy". Neurology. 59 (11): 1689–93. PMID 12473753.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Vasconcelos OM, Raju R, Dalakas MC (2003). "GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM". Neurology. 59 (11): 1776–9. PMID 12473769.CS1 maint: Multiple names: authors list (link)