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Literature summary 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

Protein Variants

EC Number Protein Variants Comment Organism
2.4.1.259 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
2.4.1.261 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)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.4.1.259 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 the human ALG9 protein catalyzes the transfer of mannose onto the two acceptor substrates DolPPGlcNAc 2Man6 and DolPP-GlcNAc2Man8 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
-
 ?
2.4.1.261 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
-
 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

EC Number Organism UniProt Comment Textmining
2.4.1.259 Homo sapiens Q9H6U8
-
-
2.4.1.261 Homo sapiens Q9H6U8
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.4.1.259 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 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
-
 ?
2.4.1.259 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 the human ALG9 protein catalyzes the transfer of mannose onto the two acceptor substrates DolPPGlcNAc 2Man6 and DolPP-GlcNAc2Man8 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
-
 ?
2.4.1.261 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 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
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.4.1.259 ALG9
-
 Homo sapiens
2.4.1.261 ALG9
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.4.1.259 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 CDG, 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
2.4.1.261 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