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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

ALG5  -  ALG5, dolichyl-phosphate beta...

Homo sapiens

Synonyms: Asparagine-linked glycosylation protein 5 homolog, DolP-glucosyltransferase, Dolichyl-phosphate beta-glucosyltransferase, HSPC149, bA421P11.2
 
 

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Summary

This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]

 

High impact information on ALG5

  • Although ALG5 was not altered in the patients, a C-->T transition was detected in ALG6 cDNA of all four CDGS patients [1].

References

  1. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. Imbach, T., Burda, P., Kuhnert, P., Wevers, R.A., Aebi, M., Berger, E.G., Hennet, T. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
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