From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
ALG3 Identifiers
Aliases
ALG3 , CDG1D, CDGS4, D16Ertd36e, NOT56L, Not56, CDGS6, not, alpha-1,3- mannosyltransferase, ALG3 alpha-1,3- mannosyltransferaseExternal IDs
OMIM :
608750
MGI :
1098592
HomoloGene :
4228
GeneCards :
ALG3
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 .
External links