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Results 1 - 5 of 5

EC Number	Natural Substrates	Commentary (Nat. Sub.)
2.4.1.142	GDP-alpha-D-mannose + chitobiosyldiphosphodolichol	-
2.4.1.142	GDP-alpha-D-mannose + N-acetyl-beta-D-glucosaminyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-diphosphodolichol	-
2.4.1.142	more	patient with congenital disorder of glycosylation is compound heterozygous for three mutations in the ALG1 gene, leading to the amino acid substitutions S150R and D429E on one allele and S258L on the other. The detrimental effect of these mutations on ALG1 protein function is demonstrated in a complementation assay. This novel type of congenital disorder of glycosylation should be referred to as CDG-Ik
2.4.1.142	more	the molecular nature of severe multisystemic disorder with a recurrent nonimmune hydrops fetalis is identified as deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase caused by a C773T transition
2.4.1.142	more	two distinct complexes that contain multiple copies of Alg1 mannosyltransferase are identified. The two Alg1-containing complexes differ from one another in that one complex contains Alg2 and the other contains Alg11. Physical association of the functionally related catalytic enzymes involved in lipid-linked oligosaccharide synthesis provides an additional level of regulation that assures proper construction of the complex oligosaccharides

Results 1 - 5 of 5

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Release 2023.1 (January 2023)