Protein-coding gene in the species Homo sapiens
ALG3 Identifiers Aliases ALG3 External IDs OMIM : 608750 ; MGI : 1098592 ; HomoloGene : 4228 ; GeneCards : ALG3 ; OMA :ALG3 - orthologs Wikidata
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
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 . 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 .
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