• integral component of membrane • endoplasmic reticulum membrane • membrane • endoplasmic reticulum
Biological process
• protein glycosylation • dolichol-linked oligosaccharide biosynthetic process • oligosaccharide-lipid intermediate biosynthetic process • protein N-linked glycosylation
Sources:Amigo / QuickGO
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
[3]
[4]
Wikidata
View/Edit Human
View/Edit Mouse
Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme that in humans is encoded by the ALG6 gene.[5][6][7]
Contents
1Function
2References
3Further reading
4External links
Function[edit]
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.[7]
References[edit]
^ abcGRCh38: Ensembl release 89: ENSG00000088035 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000073792 - Ensembl, May 2017
^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.
^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.
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[edit]
GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview
Human ALG6 genome location and ALG6 gene details page in the UCSC Genome Browser.
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