≡

Glucosamine UDP-N-Acetyl-2-Epimerase (GNE)

[Edit]

NM; DMRV; GLCNE; IBM2; Uae1; Bifunctional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase; UDP-GlcNAc-2-epimerase/ManAc kinase

Glucosamine UDP-N-Acetyl-2-Epimerase (GNE)
CCC J010
HGNC 23657
MGI 1354951
PubMed 9305887
RGD 69239
UniProt Q9Y223
Wiki GNE
GNE 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Glucosamine UDP-N-Acetyl-2-Epimerase (GNE) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Glucosamine UDP-N-Acetyl-2-Epimerase (GNE) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Glucosamine UDP-N-Acetyl-2-Epimerase (GNE) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Glucosamine UDP-N-Acetyl-2-Epimerase (GNE) CLIA Kit Customized Service Offer
n/a ELISA Kit for Glucosamine UDP-N-Acetyl-2-Epimerase (GNE) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Glucosamine UDP-N-Acetyl-2-Epimerase (GNE) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Glucosamine UDP-N-Acetyl-2-Epimerase (GNE) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Glucosamine UDP-N-Acetyl-2-Epimerase (GNE) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Glucosamine UDP-N-Acetyl-2-Epimerase (GNE) CLIA Kit Customized Service Offer
n/a ELISA Kit for Glucosamine UDP-N-Acetyl-2-Epimerase (GNE) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Glucosamine UDP-N-Acetyl-2-Epimerase (GNE) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Glucosamine UDP-N-Acetyl-2-Epimerase (GNE) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Glucosamine UDP-N-Acetyl-2-Epimerase (GNE) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Glucosamine UDP-N-Acetyl-2-Epimerase (GNE) CLIA Kit Customized Service Offer
n/a ELISA Kit for Glucosamine UDP-N-Acetyl-2-Epimerase (GNE) ELISA Kit Customized Service Offer
  1. "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. 454:341-344(1999) [PubMed] [Europe PMC] [Abstract]
  2. "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. 64:1563-1569(1999) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Prediction of three different isoforms of the human UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase."FEBS Lett. 581:3327-3331(2007) [PubMed] [Europe PMC] [Abstract]
  5. "DNA sequence and analysis of human chromosome 9." Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Identification of the metabolic defect in sialuria."J. Biol. Chem. 264:17635-17636(1989) [PubMed] [Europe PMC] [Abstract]
  8. "UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation."Science 284:1372-1376(1999) [PubMed] [Europe PMC] [Abstract]
  9. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  10. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  11. "Crystal structure of the N-acetylmannosamine kinase domain of GNE."PLoS ONE 4:E7165-E7165(2009) [PubMed] [Europe PMC] [Abstract]
  12. "Crystal structures of N-acetylmannosamine kinase provide insights into enzyme activity and inhibition."J. Biol. Chem. 287:13656-13665(2012) [PubMed] [Europe PMC] [Abstract]
  13. "Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics."Mol. Genet. Metab. 67:131-137(1999) [PubMed] [Europe PMC] [Abstract]
  14. "Dominant inheritance of sialuria, an inborn error of feedback inhibition."Am. J. Hum. Genet. 68:1419-1427(2001) [PubMed] [Europe PMC] [Abstract]
  15. "The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy."Nat. Genet. 29:83-87(2001) [PubMed] [Europe PMC] [Abstract]
  16. "A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees."Ann. Neurol. 52:516-519(2002) [PubMed] [Europe PMC] [Abstract]
  17. "Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)."J. Hum. Genet. 47:77-79(2002) [PubMed] [Europe PMC] [Abstract]
  18. "Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737)."Mol. Genet. Metab. 77:252-256(2002) [PubMed] [Europe PMC] [Abstract]
  19. "Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene."Neurology 59:451-454(2002) [PubMed] [Europe PMC] [Abstract]
  20. "Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy."Neurology 59:1689-1693(2002) [PubMed] [Europe PMC] [Abstract]
  21. "GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM."Neurology 59:1776-1779(2002) [PubMed] [Europe PMC] [Abstract]
  22. "An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene."Neurology 59:1808-1809(2002) [PubMed] [Europe PMC] [Abstract]
  23. "Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps."Hum. Mutat. 21:99-99(2003) [PubMed] [Europe PMC] [Abstract]
  24. "Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy."Muscle Nerve 28:113-117(2003) [PubMed] [Europe PMC] [Abstract]
  25. "GNE mutations causing distal myopathy with rimmed vacuoles with inflammation."Neurology 61:384-386(2003) [PubMed] [Europe PMC] [Abstract]
  26. "Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy."Hum. Mutat. 23:632-632(2004) [PubMed] [Europe PMC] [Abstract]