ALG6

ALG6, alpha-1,3-glucosyltransferase
Identifiers
Symbols	ALG6 ; CDG1C
External IDs	OMIM: 604566 MGI: 2444031 HomoloGene: 6920 GeneCards: ALG6 Gene
EC number	2.4.1.267
Gene ontology Molecular function • dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity • glucosyltransferase activity Cellular component • endoplasmic reticulum membrane • membrane • integral component of membrane Biological process • protein N-linked glycosylation • dolichol-linked oligosaccharide biosynthetic process • oligosaccharide-lipid intermediate biosynthetic process • protein N-linked glycosylation via asparagine • post-translational protein modification • cellular protein metabolic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	29929	320438
Ensembl	ENSG00000088035	ENSMUSG00000073792
UniProt	Q9Y672	Q3TAE8
RefSeq (mRNA)	NM_013339	NM_001081264
RefSeq (protein)	NP_037471	NP_001074733
Location (UCSC)	Chr 1: 63.37 – 63.44 Mb	Chr 4: 99.72 – 99.76 Mb
PubMed search

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.^[3]

References

1. Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T (Jun 1999). "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. doi:10.1073/pnas.96.12.6982. PMC 22030. PMID 10359825.
2. 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". Human Molecular Genetics 11 (5): 599–604. doi:10.1093/hmg/11.5.599. PMID 11875054.
3. "Entrez Gene: ALG6 asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)".

Further reading

• Burda P, Borsig L, de Rijk-van Andel J, Wevers R, Jaeken J, Carchon H, Berger EG, Aebi M (Aug 1998). "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. doi:10.1172/JCI2266. PMC 508925. PMID 9710431.
• Körner C, Knauer R, Holzbach U, Hanefeld F, Lehle L, von Figura K (Oct 1998). "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. doi:10.1073/pnas.95.22.13200. PMC 23759. PMID 9789065.
• 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 (May 2000). "Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic". Human Genetics 106 (5): 538–45. doi:10.1007/s004390050022. PMID 10914684.
• Westphal V, Schottstädt C, Marquardt T, Freeze HH (Jul 2000). "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. doi:10.1006/mgme.2000.3017. PMID 10924277.
• Westphal V, Murch S, Kim S, Srikrishna G, Winchester B, Day R, Freeze HH (Dec 2000). "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. doi:10.1016/S0002-9440(10)64830-4. PMC 1885788. PMID 11106564.
• 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 (Jan 2001). "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. doi:10.1136/jmg.38.1.14. PMC 1734729. PMID 11134235.
• 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". Journal of Human Genetics 46 (9): 547–8. doi:10.1007/s100380170038. PMID 11558905.
• Oriol R, Martinez-Duncker I, Chantret I, Mollicone R, Codogno P (Sep 2002). "Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate". Molecular Biology and Evolution 19 (9): 1451–63. doi:10.1093/oxfordjournals.molbev.a004208. PMID 12200473.
• Schollen E, Martens K, Geuzens E, Matthijs G (Oct 2002). "DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)". European Journal of Human Genetics 10 (10): 643–8. doi:10.1038/sj.ejhg.5200858. PMID 12357336.
• Imabayashi H, Mori T, Gojo S, Kiyono T, Sugiyama T, Irie R, Isogai T, Hata J, Toyama Y, Umezawa A (Aug 2003). "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. doi:10.1016/S0014-4827(03)00130-7. PMID 12878157.
• Westphal V, Xiao M, Kwok PY, Freeze HH (Nov 2003). "Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic". Human Mutation 22 (5): 420–1. doi:10.1002/humu.9195. PMID 14517965.
• Eklund EA, Sun L, Yang SP, Pasion RM, Thorland EC, Freeze HH (Jan 2006). "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. doi:10.1016/j.bbrc.2005.11.073. PMID 16321363.

External links

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