ALG6
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Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme that in humans is encoded by the ALG6 gene.[1][2][3]
This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic.[3]
References
- ^ Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T (Jul 1999). "A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic". Proc Natl Acad Sci U S A 96 (12): 6982–7. doi:10.1073/pnas.96.12.6982. PMC 22030. PMID 10359825. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=22030.
- ^ Westphal V, Kjaergaard S, Schollen E, Martens K, Grunewald S, Schwartz M, Matthijs G, Freeze HH (Mar 2002). "A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency". Hum Mol Genet 11 (5): 599–604. doi:10.1093/hmg/11.5.599. PMID 11875054.
- ^ a b "Entrez Gene: ALG6 asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=29929.
Further reading
- Burda P, Borsig L, de Rijk-van Andel J et al. (1998). "A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide". J. Clin. Invest. 102 (4): 647–52. doi:10.1172/JCI2266. PMC 508925. PMID 9710431. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=508925.
- Körner C, Knauer R, Holzbach U et al. (1998). "Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase". Proc. Natl. Acad. Sci. U.S.A. 95 (22): 13200–5. doi:10.1073/pnas.95.22.13200. PMC 23759. PMID 9789065. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=23759.
- Imbach T, Grünewald S, Schenk B et al. (2000). "Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic". Hum. Genet. 106 (5): 538–45. doi:10.1007/s004390050022. PMID 10914684.
- Westphal V, Schottstädt C, Marquardt T, Freeze HH (2000). "Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic". Mol. Genet. Metab. 70 (3): 219–23. doi:10.1006/mgme.2000.3017. PMID 10924277.
- Westphal V, Murch S, Kim S et al. (2001). "Reduced Heparan Sulfate Accumulation in Enterocytes Contributes to Protein-Losing Enteropathy in a Congenital Disorder of Glycosylation". Am. J. Pathol. 157 (6): 1917–25. doi:10.1016/S0002-9440(10)64830-4. PMC 1885788. PMID 11106564. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1885788.
- de Lonlay P, Seta N, Barrot S et al. (2001). "A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases". J. Med. Genet. 38 (1): 14–9. doi:10.1136/jmg.38.1.14. PMC 1734729. PMID 11134235. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1734729.
- Vuillaumier-Barrot S, Le Bizec C, Durand G, Seta N (2001). "The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic". J. Hum. Genet. 46 (9): 547–8. doi:10.1007/s100380170038. PMID 11558905.
- Oriol R, Martinez-Duncker I, Chantret I et al. (2003). "Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate". Mol. Biol. Evol. 19 (9): 1451–63. PMID 12200473.
- Schollen E, Martens K, Geuzens E, Matthijs G (2003). "DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)". Eur. J. Hum. Genet. 10 (10): 643–8. doi:10.1038/sj.ejhg.5200858. PMID 12357336.
- 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.
- Imabayashi H, Mori T, Gojo S et al. (2003). "Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large-scale cDNA analysis". Exp. Cell Res. 288 (1): 35–50. doi:10.1016/S0014-4827(03)00130-7. PMID 12878157.
- Westphal V, Xiao M, Kwok PY, Freeze HH (2004). "Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic". Hum. Mutat. 22 (5): 420–1. doi:10.1002/humu.9195. PMID 14517965.
- 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.
- Gerhard DS, Wagner L, Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Eklund EA, Sun L, Yang SP et al. (2006). "Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation". Biochem. Biophys. Res. Commun. 339 (3): 755–60. doi:10.1016/j.bbrc.2005.11.073. PMID 16321363.
- Gregory SG, Barlow KF, McLay KE et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
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