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Literature summary for 2.4.1.259 extracted from

  • Weinstein, M.; Schollen, E.; Matthijs, G.; Neupert, C.; Hennet, T.; Grubenmann, C.E.; Frank, C.G.; Aebi, M.; Clarke, J.T.; Griffiths, A.; Seargeant, L.; Poplawski N.
    CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features (2005), Am. J. Med. Genet. A, 136, 194-197.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
cloning of human ALG9 (Y286C) cDNA into a yeast expression vector Homo sapiens

Protein Variants

Protein Variants Comment Organism
Y286C patient is homozygous for the ALG9 mutation p.Y286C, deleterious effect Y286C on the ALG9 function. Compared the complementation efficiency of the wild-type and mutant ALG9 cDNA in yeast cells deficient for alg9. In an assay, the growth efficiency of the transformed yeast double mutant alg9 wbp1-2 is tested. Deficiency in lipid-linked oligosaccharide biosynthesis (alg9) in combination with reduced oligosaccharyltransferase activity (wbp1-2) results in a temperature-sensitive phenotype at 30°C. At this restrictive temperature, both the normal and mutant ALG9 cDNAs are able to restore growth. The HsALG9 transformants perform similar to the yeast alg9. The complementation with the mutant construct (HsALG9 (Y286C)) is less efficient, resulting is a reduced growth restoration. This difference becomes more prominent when the transformants are grown at 32°C. The hypoglycosylation of the alg9 yeast strain is reflected in the presence of CPY glycoforms lacking one or two N-linked oligosacharides. The human ALG9 cDNA complements the yeast mutation partially, as shown by the improved glycosylation of CPY. The complementation efficiency of the HsALG9 (Y286C) is less efficient and almost comparable to the empty vector Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9H6U8
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Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
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Homo sapiens
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Synonyms

Synonyms Comment Organism
ALG9
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Homo sapiens
ALG9 alpha1,2 mannosyltransferase
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Homo sapiens