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GCS1 / MOGS is the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. Defects in this gene are a cause of type IIb congenital disorder of glycosylation (CDGIIb). Two transcript variants encoding different isoforms have been found for this gene.
Gene Name: | mannosyl-oligosaccharide glucosidase |
Synonyms: | MOGS, CDG2B, CWH41, DER7, Glucosidase I, Processing A-glucosidase I, GCS1 |
Target Sequences: | NM_006302 NP_006293.2 Q13724 |
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