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The enzyme encoded by ALG1 catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. De plus, nous expédions Asparagine-Linked Glycosylation 1, beta-1,4-Mannosyltransferase Homolog (S. Cerevisiae) Anticorps (28) et Asparagine-Linked Glycosylation 1, beta-1,4-Mannosyltransferase Homolog (S. Cerevisiae) Protéines (9) et beaucoup plus de produits pour cette protéine.
Was detected in the patient's ALG1-coding sequence.
Family study defining the phenotype of deficiency of beta-1,4 mannosyltransferase (MT-1) congenital disorder of glycosylation (CDG), due to ALG1 gene mutations. Four novel ALG1 mutations were identified.
DNA sequencing of ALG1 revealed nine different mutations, seven of which have not been previously reported. Clinical presentations of deficiency are severe, with dysmorphias, CNS involvement and ocular disturbances
The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik.
, GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase
, GDP-mannose-dolichol diphosphochitobiose mannosyltransferase
, asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)
, asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog
, asparagine-linked glycosylation protein 1 homolog
, beta-1,4 mannosyltransferase
, asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase)
, hypothetical protein