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Literature summary for 2.4.1.259 extracted from

  • Vleugels, W.; Keldermans, L.; Jaeken, J.; Butters, T.D.; Michalski, J.C.; Matthijs, G.; Foulquier, F.
    Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient (2009), Glycobiology, 19, 910-917.
    View publication on PubMed
Search for more literature for 2.4.1.259

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
dolichyl beta-D-mannosyl phosphate + D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->3)-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol Homo sapiens
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 D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate
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Organism

Organism UniProt Comment Textmining
Homo sapiens Q9H6U8 ALG9-defective (CDG-IL) patient
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Source Tissue

Source Tissue Comment Organism Textmining
fibroblast primary fibloblast Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
dolichyl beta-D-mannosyl phosphate + D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->3)-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol
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 Homo sapiens D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate
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 ?

Synonyms

Synonyms Comment Organism
ALG9
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 Homo sapiens

General Information

General Information Comment Organism
malfunction an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A>G) mutation. This patient presents with psychomotor retardation, axial hypotonia, epilepsy, failure to thrive, inverted nipples, hepatomegaly, and pericardial effusion. Due to theALG9 deficiency, the cells of this patient accumulated the lipid-linked oligosaccharides Man6GlcNAc2-PP-dolichol and Man8GlcNAc2-PP-dolichol. Lipid-linked Man6GlcNAc2 and Man8GlcNAc2 are transferred onto proteins with the same efficiency. In addition, glycoproteins bearing these Man6GlcNAc2 and Man8GlcNAc2 structures efficiently enter in the glucosylation/deglucosylation cycle of the quality control system to assist in protein folding. In comparison with control cells, patient’s cells degrade misfolded glycoproteins at an increasing rate. The Man8GlcNAc2 isomer C on the patient’s glycoproteins is found to promote the degradation of misfolded glycoproteins Homo sapiens