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Literature summary for 2.4.1.132 extracted from

  • Thiel, C.; Schwarz, M.; Peng, J.; Grzmil, M.; Hasilik, M.; Braulke, T.; Kohlschuetter, A.; von Figura, K.; Lehle, L.; Koerner, C.
    A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis (2003), J. Biol. Chem., 278, 22498-22505.
    View publication on PubMed

Application

Application Comment Organism
medicine hALG2 is the cause of a new type of congenital disorders of glycosylation designated CDG-Ii Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
-
Saccharomyces cerevisiae
-
Homo sapiens
hALG2 encodes an alpha-1,3-mannosyltransferase resulting in Manalpha(1-3)ManGlcNAc2-PP-dolichol Homo sapiens

Protein Variants

Protein Variants Comment Organism
G393T/DELTAG1040 mutation in a patient with a congenital disorders of glycosylation designated CDG-Ii caused by ALG2 deficiency Homo sapiens
additional information ALG2 mutant with severely reduced enzyme activity Homo sapiens
additional information ALG2 mutant with severely reduced enzyme activity Saccharomyces cerevisiae

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Saccharomyces cerevisiae
-
?
-
?
additional information Homo sapiens hALG2: early steps of dolichol-linked oligosaccharide biosynthesis ?
-
?
additional information Saccharomyces cerevisiae A
-
?
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
hALG2
-
Homo sapiens Q9H553
-
-
Saccharomyces cerevisiae
-
A
-
Saccharomyces cerevisiae
-
ALG2 protein
-
Saccharomyces cerevisiae P43636
-
-
Saccharomyces cerevisiae A
-
A
-

Source Tissue

Source Tissue Comment Organism Textmining
skin fibroblast
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
GDP-alpha-D-mannose + beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphosphodolichol hALG2 Homo sapiens GDP + alpha-D-Man-(1->3)-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphosphodolichol
-
?
additional information
-
Saccharomyces cerevisiae ?
-
?
additional information hALG2: early steps of dolichol-linked oligosaccharide biosynthesis Homo sapiens ?
-
?
additional information
-
Saccharomyces cerevisiae A ?
-
?

Synonyms

Synonyms Comment Organism
GDP-Man:Man1GlcNAc2-PP-dolichol mannosyltransferase
-
Saccharomyces cerevisiae
GDP-Man:Man1GlcNAc2-PP-dolichol mannosyltransferase
-
Homo sapiens
hALG2
-
Saccharomyces cerevisiae
hALG2
-
Homo sapiens

General Information

General Information Comment Organism
malfunction deficiency of GDP-Man:Man1GlcNAc2-PP-dolichol mannosyltransferase, is the cause of a congenital disorders of glycosylation designated CDG-Ii. The patients are normal at birth but develop in the 1st year of life a multisystemic disorder with mental retardation, seizures, coloboma of the iris, hypomyelination, hepatomegaly, and coagulation abnormalities. An accumulation of Man1GlcNAc2-PP-dolichol and Man2GlcNAc2-PP-dolichol is observed in skin fibroblasts of the patient. Incubation of patient fibroblast extracts with Man1GlcNAc2-PP-dolichol and GDP-mannose reveals a severely reduced activity of the mannosyltransferase elongating Man1GlcNAc2-PP dolichol Homo sapiens