Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 2.4.1.259 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

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->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
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9H6U8
-
-

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
-
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
-
?
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
-
?

Synonyms

Synonyms Comment Organism
ALG9
-
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 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