Cloned (Comment) | Organism |
---|---|
retroviral expression of human wild-type and mutated ALG11 cDNA in patient-derived fibroblasts as well as using a yeast alg11 deletion strain as a heterologous expression system for hALG11 variants | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
L85A | no effect on Alg11 mannosyltransferase activity | Homo sapiens |
L86P | mutant enzyme does not complement the growth deffect of the mutant strain DELTAalgg3 (Saccharomyces cerevisiae) | Homo sapiens |
L86S | mutant enzyme slightly complements the growth deffect of the mutant strain DELTAalgg3 (Saccharomyces cerevisiae) | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q2TAA5 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase | - |
Homo sapiens |
hALG11 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | a patient with muscular hypotonia, convulsions, developmental retardation, dysmorphic signs and death in infancy, a deficiency of GDP-Man:Man3GlcNAc2-PP-dolichol mannosyltransferase, the human ortholog of Alg11 from yeast, is identified as the molecular cause. The enzymatic malfunction leads to impairment in the elongation of lipid-linked oligosaccharides at the outer leaflet of the endoplasmic reticulum, resulting in CDG-Ip, a congenital disorders of glycosylation. Mutation p.L86S in the endoplasmic reticulum mannosyltransferase hALG11 leads to accumulation of Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol in the index CDG-Ip patient | Homo sapiens |