ALG8 explained

Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme that in humans is encoded by the ALG8 gene.^[1]

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified.

Further reading

• Jaeken J . Congenital disorders of glycosylation (CDG): update and new developments. . J. Inherit. Metab. Dis. . 27 . 3 . 423–6 . 2005 . 15272470 . 10.1023/B:BOLI.0000031221.44647.9e . 7608163 .
• Jaeken J, Carchon H . Congenital disorders of glycosylation: a booming chapter of pediatrics. . Curr. Opin. Pediatr. . 16 . 4 . 434–9 . 2004 . 15273506 . 10.1097/01.mop.0000133636.56790.4a .
• Adams MD, Kerlavage AR, Fleischmann RD . Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. . Nature . 377 . 6547 Suppl . 3–174 . 1995 . 7566098 . etal.
• Stanchi F, Bertocco E, Toppo S . Characterization of 16 novel human genes showing high similarity to yeast sequences. . Yeast . 18 . 1 . 69–80 . 2001 . 11124703 . 10.1002/1097-0061(200101)18:1<69::AID-YEA647>3.0.CO;2-H . 21397515 . etal. free .
• Oriol R, Martinez-Duncker I, Chantret I . Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate. . Mol. Biol. Evol. . 19 . 9 . 1451–63 . 2003 . 12200473 . 10.1093/oxfordjournals.molbev.a004208. etal. free .
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Chantret I, Dancourt J, Dupré T . A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. . J. Biol. Chem. . 278 . 11 . 9962–71 . 2003 . 12480927 . 10.1074/jbc.M211950200 . etal. free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Schollen E, Frank CG, Keldermans L . Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). . J. Med. Genet. . 41 . 7 . 550–6 . 2004 . 15235028 . 10.1136/jmg.2003.016923 . 1735831 . etal.
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Otsuki T, Ota T, Nishikawa T . Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. . DNA Res. . 12 . 2 . 117–26 . 2007 . 16303743 . 10.1093/dnares/12.2.117 . etal. free .
• Kimura K, Wakamatsu A, Suzuki Y . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 . etal.

External links

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

Notes and References

1. Web site: Entrez Gene: ALG8 asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase).