Entrez gene ID | | 55624 |
Official gene symbol | | POMGNT1 |
Full name | | protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase |
Aliases | | ,DKFZp761B182,FLJ20277,GNTI.2,MEB,MGAT1.2, |
Gene summary | | The protein encoded by this gene is a type II transmembrane protein that resides in the golgi. It participates in O-mannosyl glycosylation, and is specific for alpha linked terminal mannose. Mutations in this gene are associated with muscle-eye-brain (MEB) disease. Alternatively spliced transcript variants have been found for this gene. |
Location | | Chromosome: 1 Locus: 1p34.1 |
Gene position | | 46685977 - 46654353 Map Viewer |
Gene orientation | | minus |
Gene size | | 31625 bp |
Gene sequence |
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OMIM ID | | 606822 |