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