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POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

Also known as: MEB; RP76; GNTI.2; LGMD2O; GnT I.2; MGAT1.2; gnT-I.2

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]

Genomic context

Location:
1p34.1
Sequence:
Chromosome: 1; NC_000001.11 (46188681..46220305, complement)
Total number of exons:
25

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