ALG3 explained
Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase is an enzyme that, in humans, is encoded by the ALG3 gene.[1] [2]
This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation.[2]
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 .
- Stibler H, Stephani U, Kutsch U . Carbohydrate-deficient glycoprotein syndrome--a fourth subtype. . Neuropediatrics . 26 . 5 . 235–7 . 1996 . 8552211 . 10.1055/s-2007-979762 . 2733984 .
- 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 .
- Denecke J, Kranz C, Kemming D . An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id). . Hum. Mutat. . 23 . 5 . 477–86 . 2004 . 15108280 . 10.1002/humu.20026 . 20639317 . etal. free .
- 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.
- Denecke J, Kranz C, ((von Kleist-Retzow JCh)) . Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins. . Pediatr. Res. . 58 . 2 . 248–53 . 2005 . 16006436 . 10.1203/01.PDR.0000169963.94378.B6 . etal. free .
External links
Notes and References
- Jerrold LE . Will an electric current replace the syringe for anesthesia? . Dental Student . 53 . 5 . 49, 54 . Dec 1975 . 1058125 .
- Web site: Entrez Gene: ALG3 asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase).
