ALG6

ALG6
Identifiers
Aliases	ALG6, CDG1C, alpha-1,3-glucosyltransferase, ALG6 alpha-1,3-glucosyltransferase
External IDs	OMIM: 604566; MGI: 2444031; HomoloGene: 6920; GeneCards: ALG6; OMA:ALG6 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	63,438,553 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	99,651,697 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; gonad; ; skin of thigh; ; mononuclear cell; ; monocyte; ; testicle; ; mucosa of ileum; ; granulocyte; ; mucosa of transverse colon; ; rectum;
	Top expressed in
	yolk sac; ; duodenum; ; tail of embryo; ; jejunum; ; hepatobiliary system; ; liver; ; ileum; ; epiblast; ; placenta; ; colon;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transferase activity; hexosyltransferase activity; glucosyltransferase activity; dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity; glycosyltransferase activity; dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity;
Cellular component	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
	29929
	320438
	ENSG00000088035
	ENSMUSG00000073792
	Q9Y672
	Q3TAE8
	NM_013339
	NM_001081264
	NP_037471
	NP_001074733
	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]

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.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000088035 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000073792 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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. Bibcode:1999PNAS...96.6982I. 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.
^ ^a ^b "Entrez Gene: ALG6 asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)".

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" (PDF). Proceedings of the National Academy of Sciences of the United States of America. 95 (22): 13200–5. Bibcode:1998PNAS...9513200K. 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. S2CID 6115715.
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.