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Article

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.

Human molecular genetics - 15 Sept 2002

Grubenmann Claudia E, Frank Christian G, Kjaergaard Susanne, Berger Eric G, Aebi Markus, Hennet Thierry

Abstract excerpt

In the endoplasmic reticulum (ER) of eukaryotes, N-linked glycans are first assembled on the lipid carrier dolichyl pyrophosphate. The GlcNAc(2)Man(9)Glc(3) oligosaccharide is transferred to selected asparagine residues of nascent polypeptides. Defects along the biosynthetic pathway of N-glycans are associated with severe multisystemic syndromes called congenital disorders of glycosylation. Here, we describe a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12217961
DOI: 10.1093/hmg/11.19.2331

Genes

ALG12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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