ALG3
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Protein-coding gene in the species Homo sapiens
| ALG3 | |||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | ALG3 , CDG1D, CDGS4, D16Ertd36e, NOT56L, Not56, CDGS6, not, alpha-1,3- mannosyltransferase, ALG3 alpha-1,3- mannosyltransferase | ||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608750; MGI: 1098592; HomoloGene: 4228; GeneCards: ALG3; OMA:ALG3 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||
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Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase is an enzyme that, in humans, is encoded by the ALG3 gene.[5] [6]
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.[6]
References
[edit ]- ^ a b c GRCh38: Ensembl release 89: ENSG00000214160 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033809 – 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.
- ^ Jerrold LE (Dec 1975). "Will an electric current replace the syringe for anesthesia?". Dental Student. 53 (5): 49, 54. PMID 1058125.
- ^ a b "Entrez Gene: ALG3 asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)".
Further reading
[edit ]- 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. S2CID 7608163.
- 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. S2CID 2733984.
- 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
- 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. S2CID 20639317.
- 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.
- 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
[edit ]- GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview
- ALG3 human gene location in the UCSC Genome Browser.
- ALG3 human gene details in the UCSC Genome Browser.
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