ALG3
| ALG3, alpha-1,3- mannosyltransferase | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | ALG3 ; CDG1D; CDGS4; D16Ertd36e; NOT56L; Not56 | ||||||||||||
| External IDs | OMIM: 608750 MGI: 1098592 HomoloGene: 4228 GeneCards: ALG3 Gene | ||||||||||||
| EC number | 2.4.1.258 | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 10195 | 208624 | |||||||||||
| Ensembl | ENSG00000214160 | ENSMUSG00000033809 | |||||||||||
| UniProt | Q92685 | Q8K2A8 | |||||||||||
| RefSeq (mRNA) | NM_001006940 | NM_145939 | |||||||||||
| RefSeq (protein) | NP_001006942 | NP_666051 | |||||||||||
| Location (UCSC) | Chr 3: 183.96 – 183.97 Mb | Chr 16: 20.61 – 20.61 Mb | |||||||||||
| PubMed search | |||||||||||||
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.
- ↑ 2.0 2.1 "Entrez Gene: ALG3 asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)".
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.
- 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.
- 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
- 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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