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]
Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Bone marrow & Lymphoid tissuesBrainBreast and female reproductive systemConnective & Soft tissueEndocrine tissuesEyeGastrointestinal tractKidney & Urinary bladderLiver & GallbladderLymphoidMale reproductive systemMuscle tissuesMyeloidPancreasProximal digestive tractRespiratory systemSkin
* nTPM: Normalized TPM levels represent consensus gene expression calculated using two data sets. Read more RNA data sourced from Human Protein Atlas.