LFNG
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase, also known as LFNG and Lunatic Fringe,[1] is a human gene.[2]
This gene encodes a member of the glycosyltransferase superfamily. The encoded protein is a single-pass type II Golgi membrane protein that functions as a fucose-specific glycosyltransferase, adding an N-acetylglucosamine to the fucose residue of a group of signaling receptors involved in regulating cell fate decisions during development. Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3 Jarcho-Levin syndrome#Spondylocostal dysostosis. Alternatively spliced transcript variants that encode different isoforms have been described, however, not all variants have been fully characterized.[2]
[edit] References
- ^ Egan S, Herbrick JA, Tsui LC et al (1999). "Mapping of the human Lunatic Fringe (LFNG) gene to 7p22 and Manic Fringe (MFNG) to 22q12". Genomics 54 (3): 576–7. doi:10.1006/geno.1998.5559. PMID 9878264.
- ^ a b "Entrez Gene: LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3955.
[edit] External links
[edit] Further reading
- Johnston SH, Rauskolb C, Wilson R et al (1997). "A family of mammalian Fringe genes implicated in boundary determination and the Notch pathway". Development 124 (11): 2245–54. PMID 9187150.
- Moran JL, Johnston SH, Rauskolb C et al (1999). "Genomic structure, mapping, and expression analysis of the mammalian Lunatic, Manic, and Radical fringe genes". Mamm. Genome 10 (6): 535–41. doi:10.1007/s003359901039. PMID 10341080.
- Moloney DJ, Panin VM, Johnston SH et al (2000). "Fringe is a glycosyltransferase that modifies Notch". Nature 406 (6794): 369–75. doi:10.1038/35019000. PMID 10935626.
- Shimizu K, Chiba S, Saito T et al (2001). "Manic fringe and lunatic fringe modify different sites of the Notch2 extracellular region, resulting in different signaling modulation". J. Biol. Chem. 276 (28): 25753–8. doi:10.1074/jbc.M103473200. PMID 11346656.
- Cole SE, Levorse JM, Tilghman SM, Vogt TF (2002). "Clock regulatory elements control cyclic expression of Lunatic fringe during somitogenesis". Dev. Cell 3 (1): 75–84. doi:10.1016/S1534-5807(02)00212-5. PMID 12110169.
- Strausberg RL, Feingold EA, Grouse LH et al (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Shao L, Moloney DJ, Haltiwanger R (2003). "Fringe modifies O-fucose on mouse Notch1 at epidermal growth factor-like repeats within the ligand-binding site and the Abruptex region". J. Biol. Chem. 278 (10): 7775–82. doi:10.1074/jbc.M212221200. PMID 12486116.
- Ota T, Suzuki Y, Nishikawa T et al (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Oh JH, Yang JO, Hahn Y et al (2006). "Transcriptome analysis of human gastric cancer". Mamm. Genome 16 (12): 942–54. doi:10.1007/s00335-005-0075-2. PMID 16341674.
- Sparrow DB, Chapman G, Wouters MA et al (2006). "Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype". Am. J. Hum. Genet. 78 (1): 28–37. doi:10.1086/498879. PMC 1380221. PMID 16385447. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1380221.
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