| Symbol | POMGNT1 |
| Name | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
| Type | protein-coding |
| Source | mygene |
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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