B3GALTL explained

Beta-1,3-glucosyltransferase is an enzyme that in humans is encoded by the B3GALTL gene.^{[1] [2] [3] [4]}

External links

• GeneReviews/NCBI/NIH/UW entry on Peters Plus Syndrome
• OMIM entries on Peters Plus syndrome

Further reading

• Strausberg RL . 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 . 16899–16903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . Feingold EA . Grouse LH . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–45 . 2004 . 14702039 . 10.1038/ng1285 . Suzuki Y . Nishikawa T . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Dunham A . The DNA sequence and analysis of human chromosome 13 . Nature . 428 . 6982 . 522–528 . 2004 . 15057823 . 10.1038/nature02379 . 2665288 . Matthews LH . Burton J . Ashurst . J. L. . Howe . K. L. . Ashcroft . K. J. . Beare . D. M. . Burford . D. C. . Hunt . S. E. . 2004Natur.428..522D .
• Gerhard DS . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–2127 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . Wagner L . Feingold EA . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Kimura K . 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 . Wakamatsu A . Suzuki Y . Ota . T . Nishikawa . T . Yamashita . R . Yamamoto . J . Sekine . M . Tsuritani . K .
• Lesnik Oberstein SA . Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase . Am. J. Hum. Genet. . 79 . 3 . 562–566 . 2006 . 16909395 . 10.1086/507567 . 1559553 . Kriek M . White SJ . Kalf . Margot E. . Szuhai . Karoly . Den Dunnen . Johan T. . Breuning . Martijn H. . Hennekam . Raoul C.M. .

Notes and References

1. Heinonen TY, Pasternack L, Lindfors K, Breton C, Gastinel LN, Maki M, Kainulainen H . A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts . Biochem Biophys Res Commun . 309 . 1 . 166–174 . Aug 2003 . 12943678 . 10.1016/S0006-291X(03)01540-7 .
2. Sato T, Sato M, Kiyohara K, Sogabe M, Shikanai T, Kikuchi N, Togayachi A, Ishida H, Ito H, Kameyama A, Gotoh M, Narimatsu H . Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain . Glycobiology . 16 . 12 . 1194–1206 . Nov 2006 . 16899492 . 10.1093/glycob/cwl035 . free .
3. Kozma K, Keusch JJ, Hegemann B, Luther KB, Klein D, Hess D, Haltiwanger RS, Hofsteenge J . Identification and characterization of abeta1,3-glucosyltransferase that synthesizes the Glc-beta1,3-Fuc disaccharide on thrombospondin type 1 repeats . J Biol Chem . 281 . 48 . 36742–36751 . Nov 2006 . 17032646 . 10.1074/jbc.M605912200 . free .
4. Web site: Entrez Gene: B3GALTL beta 1,3-galactosyltransferase-like.