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Literature summary for 2.4.1.261 extracted from

  • Frank, C.G.; Grubenmann, C.E.; Eyaid, W.; Berger, E.G.; Aebi, M.; Hennet, T.
    Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL (2004), Am. J. Hum. Genet., 75, 146-150.
    View publication on PubMedView publication on EuropePMC
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Protein Variants

Protein Variants Comment Organism
E523K the ALG9 defect defines a form of congenital disorders of glycosylation named CDG-IL. The patient with this ALG9 defect, who presents with developmental delay, hypotonia, seizures, and hepatomegaly Homo sapiens

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->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->6)]-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->2)-D-Man-alpha-(1->6)]-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
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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->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->6)]-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->2)-D-Man-alpha-(1->6)]-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 congenital disorders of glycosylation, a deficiency of the ALG9 alpha1,2 mannosyltransferase enzyme, causes an accumulation of lipid-linked-GlcNAc2Man6 and -GlcNAc2Man8 structures, which is paralleled by the transfer of incomplete oligosaccharide precursors to protein. A homozygous point-mutation E523K is detected in the ALG9 gene. The ALG9 defect found in the patient with congenital disorders of glycosylation, who presents with developmental delay, hypotonia, seizures, and hepatomegaly, shows that efficient lipid-linked oligosaccharide synthesis is required for proper human development and physiology Homo sapiens