| ncRNA Symbol: | POMGNT1 |
| Full Name: | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
| Category: | mRNA |
| Synonyms: | GNTI.2|GnT I.2|LGMD2O|LGMDR15|MEB|MGAT1.2|RP76|gnT-I.2 |
| Chromosome: | chr1 |
| Strand: | - |
| Coordinate: | | Start Site(bp): | 46188682 | End Site(bp): | 46220305 |
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| Gene Summary: | This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014] |
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