ALG6 explained

Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme that in humans is encoded by the ALG6 gene.^{[1] [2] [3]}

Function

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.

Further reading

• Burda P, Borsig L, de Rijk-van Andel J, Wevers R, Jaeken J, Carchon H, Berger EG, Aebi M . A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide . The Journal of Clinical Investigation . 102 . 4 . 647–52 . Aug 1998 . 9710431 . 508925 . 10.1172/JCI2266 .
• Körner C, Knauer R, Holzbach U, Hanefeld F, Lehle L, von Figura K . Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase . Proceedings of the National Academy of Sciences of the United States of America . 95 . 22 . 13200–5 . Oct 1998 . 9789065 . 23759 . 10.1073/pnas.95.22.13200 . 1998PNAS...9513200K . free .
• Imbach T, Grünewald S, Schenk B, Burda P, Schollen E, Wevers RA, Jaeken J, de Klerk JB, Berger EG, Matthijs G, Aebi M, Hennet T . Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic . Human Genetics . 106 . 5 . 538–45 . May 2000 . 10914684 . 10.1007/s004390050022 .
• Westphal V, Schottstädt C, Marquardt T, Freeze HH . Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic . Molecular Genetics and Metabolism . 70 . 3 . 219–23 . Jul 2000 . 10924277 . 10.1006/mgme.2000.3017 .
• Westphal V, Murch S, Kim S, Srikrishna G, Winchester B, Day R, Freeze HH . Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation . The American Journal of Pathology . 157 . 6 . 1917–25 . Dec 2000 . 11106564 . 1885788 . 10.1016/S0002-9440(10)64830-4 .
• de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schmitz J, van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray JM, Cormier-Daire V . A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases . Journal of Medical Genetics . 38 . 1 . 14–9 . Jan 2001 . 11134235 . 1734729 . 10.1136/jmg.38.1.14 .
• Vuillaumier-Barrot S, Le Bizec C, Durand G, Seta N . The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic . Journal of Human Genetics . 46 . 9 . 547–8 . 2001 . 11558905 . 10.1007/s100380170038 . free .
• Oriol R, Martinez-Duncker I, Chantret I, Mollicone R, Codogno P . Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate . Molecular Biology and Evolution . 19 . 9 . 1451–63 . Sep 2002 . 12200473 . 10.1093/oxfordjournals.molbev.a004208 . free .
• Schollen E, Martens K, Geuzens E, Matthijs G . DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG) . European Journal of Human Genetics . 10 . 10 . 643–8 . Oct 2002 . 12357336 . 10.1038/sj.ejhg.5200858 . free .
• Imabayashi H, Mori T, Gojo S, Kiyono T, Sugiyama T, Irie R, Isogai T, Hata J, Toyama Y, Umezawa A . Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large-scale cDNA analysis . Experimental Cell Research . 288 . 1 . 35–50 . Aug 2003 . 12878157 . 10.1016/S0014-4827(03)00130-7 .
• Westphal V, Xiao M, Kwok PY, Freeze HH . Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic . Human Mutation . 22 . 5 . 420–1 . Nov 2003 . 14517965 . 10.1002/humu.9195 . 6115715 .
• Eklund EA, Sun L, Yang SP, Pasion RM, Thorland EC, Freeze HH . Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation . Biochemical and Biophysical Research Communications . 339 . 3 . 755–60 . Jan 2006 . 16321363 . 10.1016/j.bbrc.2005.11.073 .

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview

Notes and References

1. Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T . A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic . Proceedings of the National Academy of Sciences of the United States of America . 96 . 12 . 6982–7 . Jun 1999 . 10359825 . 22030 . 10.1073/pnas.96.12.6982 . 1999PNAS...96.6982I . free .
2. Westphal V, Kjaergaard S, Schollen E, Martens K, Grunewald S, Schwartz M, Matthijs G, Freeze HH . 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 . Human Molecular Genetics . 11 . 5 . 599–604 . Mar 2002 . 11875054 . 10.1093/hmg/11.5.599 . free .
3. Web site: Entrez Gene: ALG6 asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase).