ALG3
Top
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]
References
- ^ Jerrold LE (Dec 1975). "Will an electric current replace the syringe for anesthesia?". Dent Stud 53 (5): 49, 54. PMID 1058125.
- ^ a b "Entrez Gene: ALG3 asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10195.
Further reading
- Jaeken J (2005). "Congenital disorders of glycosylation (CDG): update and new developments.". J. Inherit. Metab. Dis. 27 (3): 423–6. doi:10.1023/B:BOLI.0000031221.44647.9e. PMID 15272470.
- Jaeken J, Carchon H (2004). "Congenital disorders of glycosylation: a booming chapter of pediatrics.". Curr. Opin. Pediatr. 16 (4): 434–9. doi:10.1097/01.mop.0000133636.56790.4a. PMID 15273506.
- Stibler H, Stephani U, Kutsch U (1996). "Carbohydrate-deficient glycoprotein syndrome--a fourth subtype.". Neuropediatrics 26 (5): 235–7. doi:10.1055/s-2007-979762. PMID 8552211.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Denecke J, Kranz C, Kemming D, et al. (2004). "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. doi:10.1002/humu.20026. PMID 15108280.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Denecke J, Kranz C, von Kleist-Retzow JCh, et al. (2005). "Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins.". Pediatr. Res. 58 (2): 248–53. doi:10.1203/01.PDR.0000169963.94378.B6. PMID 16006436.
External links
 |
This protein-related article is a stub. You can help Wikipedia by expanding it. |
|
|||||||||||||||||||||||||||||||||||||||||
This entry is from Wikipedia, the leading user-contributed encyclopedia. It may not have been reviewed by professional editors (see full disclaimer)
Post a question - any question - to the WikiAnswers community:
Copyrights:
Wikipedia on Answers.com
This article is licensed under the Creative Commons Attribution/Share-Alike License. It uses material from the Wikipedia article ALG3.
Read more