GNE (gene)

GNE (gene)

Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase, also known as GNE, is a human gene.cite web | title = Entrez Gene: GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10020| accessdate = ]

PBB_Summary
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summary_text = 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.cite web | title = Entrez Gene: GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10020| accessdate = ]

References

Further reading

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

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