Entrez gene ID | | 7841 |
Official gene symbol | | MOGS |
Full name | | mannosyl-oligosaccharide glucosidase |
Aliases | | ,CDG2B,GCS1, |
Gene 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] |
Location | | Chromosome: 2 Locus: 2p13-p12 |
Gene position | | 74692537 - 74688184 Map Viewer |
Gene orientation | | minus |
Gene size | | 4354 bp |
Gene sequence |
| |
OMIM ID | | 601336 |
|