Entrez 55624 | Ensembl ENSG00000085998 | |
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Aliases POMGNT1, GNTI.2, GnT I.2, LGMD2O, MEB, MGAT1.2, gnT-I.2, protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) External IDs MGI: 1915523 HomoloGene: 9806 GeneCards: POMGNT1 | ||
Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 is an enzyme that in humans is encoded by the POMGNT1 gene.
Function
The product of the POMGNT1 gene, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase, participates in O-mannosyl glycan synthesis. It is mutant in muscle-eye-brain disease (MIM 253280).[supplied by OMIM]
References
POMGNT1 Wikipedia(Text) CC BY-SA