Gene Symbol | MOGS |
Entrez Gene ID | 7841 |
Full Name | mannosyl-oligosaccharide glucosidase |
Synonyms | CDG2B,CWH41,DER7,GCS1 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes 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. [provided by RefSeq, Mar 2009]. |
Disorder MIM: | |
Disorder Html: | Congenital disorder of glycosylation, type IIb, 606056 (3) |