EC Number |
General Information |
Reference |
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2.4.1.131 | malfunction |
a deletion of the ALG11 gene leads to poor growth and temperature-sensitive lethality, disruption of the ALG11 locus results in Underglycosylation of proteins |
708974 |
2.4.1.131 | 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 |
708657 |
2.4.1.131 | malfunction |
compared with wild-type cells, DELTAalg11 grows poorly and osmotic stabilization by KCl only slightly improved growth. Deletion of ALG11 causes a temperature-sensitive lethality between 32°C and 36°C |
707436 |
2.4.1.131 | malfunction |
gmd3 mutant cannot grow at 37°C. Construction of a plasmid pREP1+/-ALG11HA for the expression of Saccharomyces cerevisiae ALG11 in Schizosaccharomyces pombe and introducing it into gmd3 mutant. The gmd3 mutant, carrying pREP+/-ALG11HA, grows at 37°C, whereas the gmd3 mutant, carrying vector pREP1 alone, does not. The defect in acid phosphatase glycosylation of gmd3 mutant is also suppressed by Saccharomyces cerevisiae ALG11. The gmd3+/alg11+ gene is a functional homologue of the Saccharomyces cerevisiae ALG11 gene |
710691 |
2.4.1.131 | malfunction |
mutant lew3, which has a defect in alpha-1,2-mannosyltransferase is deficient in N-glycosylation |
710284 |